C1968602	surfactant metabolism dysfunction, pulmonary, 1
C0268293	corticosterone methyl oxidase type i deficiency
C1706595	pachyonychia congenita, jadassohn lewandowsky type
C1834674	bethlem myopathy
C1865926	infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
C0268292	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
C1845888	thrombocythemia, x-linked
C1849554	lymphangiectasia, pulmonary, congenital
C1862163	brachydactyly types b and e combined
C1837213	orofacial cleft 6, susceptibility to
C3151363	parasomnia, sleepwalking type
C1864861	tumoral calcinosis, normophosphatemic, familial
C0268297	pseudovaginal perineoscrotal hypospadias
C0268296	17-hydroxysteroid dehydrogenase deficiency
C1834673	facioscapulohumeral muscular dystrophy 1a
C1321551	shprintzen-goldberg syndrome
C1835830	epiphyseal dysplasia, baumann type
C1260899	anemia, diamond-blackfan
C1854182	parkinson disease 4, autosomal dominant lewy body (disorder)
C1854180	cone-rod dystrophy 8 (disorder)
C1865915	fibrosis of extraocular muscles, congenital, 2
C1837229	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6
C1842247	coronary artery disease, autosomal dominant, 1
C1861967	idiopathic basal ganglia calcification, childhood onset
C1864871	chromosome 17q21.31 deletion syndrome
C1864872	spondyloepimetaphyseal dysplasia, genevieve type
C1835849	congenital disorder of glycosylation, type im
C1865143	branchiootic syndrome 1
C0403720	x-linked recessive nephrolithiasis with renal failure
C0008325	cholecystitis
C1865145	congenital disorder of glycosylation type 1b
C1855305	ter haar syndrome
C3160719	iga nephropathy, susceptibility to, 1
C0268271	gangliosidosis, generalized gm1, type 1 (disorder)
C0036341	schizophrenia
C3151347	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
C0268273	gangliosidosis, generalized gm1, type 3
C0268272	gangliosidosis, generalized gm1, type 2
C1834692	neuronopathy, distal hereditary motor, type iia
C1419156	pygl gene
C0751509	short sleeper syndrome
C1834690	spinal muscular atrophy, lower extremity, autosomal dominant
C1835851	ichthyosis with hypotrichosis, autosomal recessive
C1837646	asperger syndrome, susceptibility to, 1
C1835852	alopecia-mental retardation syndrome 2
C1835854	deafness, autosomal recessive 68
C1845366	mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
C0020179	huntington disease
C1846492	spinocerebellar ataxia, autosomal recessive 4
C1836916	posterior column ataxia with retinitis pigmentosa
C1836915	mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature
C0392475	roberts-sc phocomelia syndrome
C1846496	gaze palsy, familial horizontal, with progressive scoliosis
C1865117	skeletal dysplasia and progressive central nervous system degeneration, lethal
C1837640	deafness, autosomal dominant 28
C0268689	vitamin d-dependent rickets, type 1
C0268262	sphingolipid activator protein 1 deficiency (disorder)
C0034345	pyruvate dehydrogenase complex deficiency disease
C1853205	glycosylphosphatidylinositol deficiency
C1263858	muscular dystrophy congenital, merosin negative
C1856439	glaucoma 3, primary congenital, a
C1845359	spinal muscular atrophy, distal, x-linked 3
C0034341	pyruvate carboxylase deficiency disease
C1836907	narcolepsy 3
C1836906	arrhythmogenic right ventricular dysplasia, familial, 9
C1836100	myopathy, autophagic vacuolar, infantile-onset
C3149104	ectopia lentis, isolated, autosomal dominant
C0346104	follicular atrophoderma and basal cell epitheliomata
C1563715	andersen syndrome
C0270726	alexander disease
C1845845	mental retardation, x-linked, with short stature (disorder)
C1366623	aprt gene
C0270724	infantile neuroaxonal dystrophy
C1439335	lpa gene
C1836133	muscular dystrophy, congenital, merosin-positive
C1845343	epilepsy, x-linked, with variable learning disabilities and behavior disorders
C2675369	chromosome 22q11.2 duplication syndrome
C1845341	asperger syndrome, x-linked, susceptibility to, 1 (disorder)
C1857777	arrhythmogenic right ventricular dysplasia, familial, 10
C1857776	3-@methylglutaconic aciduria, type v
C1857779	senior-loken syndrome 6
C1854146	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
C1833170	wiskott-aldrich syndrome, autosomal dominant form
C1850959	corneal dystrophy, fuchs' endothelial, 1
C1849524	pygmy (disorder)
C0080333	weber-cockayne syndrome
C0013903	ellis-van creveld syndrome
C0265294	pyle metaphyseal dysplasia
C0265293	frontometaphyseal dysplasia
C0265295	jansen type metaphyseal chondrodysplasia
C1563705	nephrogenic diabetes insipidus, type i
C1563706	nephrogenic diabetes insipidus, type ii
C1861922	campomelic dysplasia
C1857780	joubert syndrome 5
C2751729	epilepsy, idiopathic generalized, susceptibility to, 7
C2674876	loeys-dietz syndrome, type 1b
C1866636	charcot-marie-tooth disease, type 4c
C1854154	charcot-marie-tooth disease, type 2b1
C1836123	goldberg-shprintzen megacolon syndrome
C3150275	complement component 2 deficiency
C1845837	dyserythropoietic anemia with thrombocytopenia
C1854150	charcot-marie-tooth disease, type 2b2
C1836929	emanuel syndrome
C1861513	cluster headache, familial
C1853698	rippling muscle disease
C1845334	asperger syndrome, x-linked, susceptibility to, 2 (finding)
C1845336	autism, x-linked, susceptibility to, 3 (finding)
C0265280	spondylometaphyseal dysplasia, kozlowski type
C0340834	hennekam lymphangiectasia lymphedema syndrome
C0265289	metaphyseal chondrodysplasia schmid type
C0265287	acromicric dysplasia
C1842237	charcot-marie-tooth disease, dominant intermediate c
C1845862	creatine deficiency, x-linked
C1851347	familial mediterranean fever, autosomal dominant
C0265286	dyggve-melchior-clausen syndrome
C1845861	mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait
C0265283	atelosteogenesis, type 1
C0265282	fibrochondrogenesis
C0001733	afibrinogenemia
C1836155	myopathy, myofibrillar, 4
C0393807	hereditary motor and sensory neuropathy with optic atrophy (disorder)
C0040517	gilles de la tourette syndrome
C1835814	mitral valve prolapse, myxomatous 3
C0036391	schwartz-jampel syndrome
C1835829	immunodeficiency due to defect in mapbp-interacting protein
C0393808	charcot-marie-tooth disease, x-linked, 1
C1708350	hereditary leiomyomatosis and renal cell cancer
C1837203	waardenburg syndrome, type iid
C0265275	jeune thoracic dystrophy
C0031069	familial mediterranean fever
C0265278	acromesomelic dysplasia
C0265274	achondrogenesis, type ib (disorder)
C0265273	achondrogenesis type 1a
C1836946	peripheral cone dystrophy
C1439329	cbs gene
C0002066	alkaptonuria
C0265279	kniest dysplasia
C1861537	orofacial cleft 1
C1836148	supranuclear palsy, progressive, 2
C1860406	vitreoretinochoroidopathy (disorder)
C0393818	congenital hypomyelinating neuropathy
C1861028	esophageal atresia with or without tracheoesophageal fistula
C2749128	myopathy, congenital, with fiber-type disproportion, x-linked
C0393814	hereditary liability to pressure palsies
C1860433	nystagmus 4, congenital, autosomal dominant (disorder)
C2717906	hereditary angioedema type i
C1843942	mental retardation, autosomal recessive 2
C0265269	lacrimoauriculodentodigital syndrome
C1846431	smith-mccort dysplasia
C0265268	adams oliver syndrome
C1843173	charcot-marie-tooth disease, type 2h
C0265260	chondrodysplasia, grebe type
C0265261	multiple pterygium syndrome
C0265263	femoral hypoplasia - unusual facies syndrome
C1832370	myopathy, myofibrillar, desmin-related
C1860823	trichorhinophalangeal syndrome, type iii
C0265264	holt-oram syndrome
C0265267	child syndrome
C1853251	spastic paraplegia 33, autosomal dominant
C1856892	facial dysmorphism with multiple malformations
C0206368	exfoliation syndrome
C1306065	acetabular dysplasia
C1969562	mental retardation, autosomal dominant 1
C1837697	asperger syndrome, susceptibility to, 2
C0265259	popliteal pterygium syndrome
C1843183	charcot-marie-tooth disease, type 4a, axonal form
C0265257	genee-wiedemann syndrome
C1846421	lathosterolosis
C0265252	coffin-lowry syndrome
C1833136	marden walker like syndrome
C0162309	adrenoleukodystrophy
C1846038	mental retardation, x-linked 72
C1850627	nasodigitoacoustic syndrome
C0265253	stickler syndrome (disorder)
C1850625	native american myopathy
C1846033	goiter, multinodular 2
C1848435	woolly hair, autosomal recessive 1, with or without hypotrichosis
C1856881	faciothoracogenital syndrome
C1834207	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant
C1840572	hip dysplasia, beukes type
C0006142	malignant neoplasm of breast
C1833662	inclusion body myopathy with early-onset paget disease and frontotemporal dementia
C1800706	usual interstitial pneumonitis
C1858079	osteoarthritis with mild chondrodysplasia
C0085580	essential hypertension
C1833661	paroxysmal extreme pain disorder
C0265246	townes syndrome
C0265249	mental retardation mietens weber type
C0752166	bardet-biedl syndrome
C0265248	ruvalcaba syndrome
C1853278	bleeding disorder, platelet-type, 8
C1832394	deafness, autosomal recessive 12
C1866282	ceroid lipofuscinosis, neuronal, 6
C1858084	stickler syndrome, type ii (disorder)
C1853276	deafness, autosomal recessive 28
C0265245	nager syndrome
C1850654	myotonia with skeletal abnormalities and mental retardation
C1862103	brachydactyly type c
C1833163	enamel hypoplasia, cataracts, and aqueductal stenosis
C1832399	charcot-marie-tooth disease, type 4b1
C1859598	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
C0079299	epidermolysis bullosa simplex kobner
C1840560	hidradenitis suppurativa, familial
C1866650	steatocystoma multiplex with natal teeth
C0342195	iodotyrosine deiodination defect
C0079295	epidermolysis bullosa herpetiformis dowling-meara
C0342194	iodotyrosyl coupling defect
C0342196	thyroglobulin synthesis defect
C1846949	brachydactyly, type a1, b
C0265239	wildervanck's syndrome
C1866656	stapes ankylosis with broad thumb and toes (disorder)
C2675336	chromosome 15q11-q13 duplication syndrome
C0268600	3-methylcrotonyl coa carboxylase 1 deficiency
C0265235	marshall syndrome
C1866294	adducted thumb and clubfoot syndrome
C1853286	erythrocytosis, familial, 3
C0265233	cryptophthalmos syndrome
C1841621	fetal hemoglobin quantitative trait locus 1
C0085576	microcytic anemia
C2752043	giacheti syndrome
C1865596	desmosterolosis
C2674218	spherocytosis, type 1 (disorder)
C1862112	brachydactyly, type b1
C1846010	uruguay faciocardiomusculoskeletal syndrome
C2752042	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
C0265493	cat eye syndrome
C1832388	platelet disorder, familial, with associated myeloid malignancy
C1849508	epilepsy, pyridoxine-dependent
C2752048	orofaciodigital syndrome 11
C0030360	papillon-lefevre disease
C1861481	stickler syndrome, type 3
C0265224	freeman-sheldon syndrome
C1848470	whistling face syndrome, recessive form
C1862939	amyotrophic lateral sclerosis 1
C1850671	myosclerosis, autosomal recessive
C0268631	succinic semialdehyde dehydrogenase deficiency
C0014866	esophageal stenosis
C0265226	hecht syndrome (disorder)
C0014867	esophageal varices
C0265227	schinzel-giedion syndrome
C1860861	tremor, hereditary essential, 1
C1850674	minicore myopathy with external ophthalmoplegia (disorder)
C1853623	fryns-aftimos syndrome
C0524582	mulibrey nanism
C0236642	pick disease of the brain
C0265449	pallister-killian syndrome
C0033788	pseudo-hurler polydystrophy
C1847902	charcot-marie-tooth disease, dominant intermediate b (disorder)
C0574083	3-methylglutaconic aciduria type 2
C0574084	3-methylglutaconic aciduria type 3
C0574080	guanidinoacetate methyltransferase deficiency
C1853215	pachygyria, frontotemporal
C1846979	senior-loken syndrome 4
C1853214	retinitis pigmentosa 35
C1833104	diabetes mellitus, permanent neonatal
C0265221	walker-warburg congenital muscular dystrophy
C0265220	pallister-hall syndrome
C0265223	cohen syndrome
C2752090	pelvic organ prolapse, susceptibility to
C0265215	meckel-gruber syndrome
C1327917	wt limb blood syndrome
C0265216	x-linked hydrocephalus syndrome
C1327916	revesz syndrome (disorder)
C0395921	benign recurrent vertigo
C0268621	hepatic methionine adenosyltransferase deficiency
C0024748	alpha-mannosidosis
C1327918	oculootoradial syndrome
C0265219	miller dieker syndrome
C1562113	fleck corneal dystrophy
C1843140	seizures, benign familial infantile, 3
C1327915	congenital amegakaryocytic thrombocytopenia
C0265218	neu-laxova syndrome
C1834235	neurofibromatosis, familial spinal
C0043459	zellweger syndrome
C1859974	glucocorticoid deficiency 1
C1862130	brachydactyly type a6
C1096902	infantile sialic acid storage disease
C1096903	sialic acid storage disease, finnish type (disorder)
C2973527	dentinogenesis imperfecta without osteogenesis imperfecta
C0432443	deletion of long arm of chromosome 18
C0432442	chromosome 18p deletion syndrome
C0033770	prune belly syndrome
C1853616	sener syndrome
C0268623	tyrosinemia, type iii
C0265211	marshall-smith syndrome
C1416498	itgb3 gene
C0265210	weaver syndrome
C0268626	juvenile nephropathic cystinosis (disorder)
C0752124	spinocerebellar ataxia type 6 (disorder)
C0220993	cystathioninuria
C1843153	charcot-marie-tooth disease, type 2j
C0752125	spinocerebellar ataxia type 7
C1866688	spondylometaphyseal dysplasia, algerian type
C0752120	spinocerebellar ataxia type 1
C0265202	seckel syndrome
C0752121	spinocerebellar ataxia type 2
C0752122	spinocerebellar ataxia type 4
C0752123	spinocerebellar ataxia type 5
C0265205	robinow syndrome
C1856871	faciodigitogenital syndrome, recessive
C1853230	aphakia, congenital primary
C1846046	spastic paraplegia 16, x-linked (disorder)
C1865566	weyers ulnar ray/oligodactyly syndrome
C0162359	christ-siemens-touraine syndrome
C1414497	f10 gene
C1367597	afp gene
C1848488	pierre robin syndrome with fetal chondrodysplasia
C1970253	phosphoserine aminotransferase deficiency
C0349464	wernicke-korsakoff syndrome
C0220992	histidinemia
C1970269	choreoathetosis, hypothyroidism, and neonatal respiratory distress
C1843164	charcot-marie-tooth disease, demyelinating, type 1f
C0032197	platelet storage pool deficiency
C0220989	acquired partial lipodystrophy
C1698581	rokitansky kuster hauser syndrome
C2931540	x-linked severe combined immunodeficiency
C0162361	hidrotic ectodermal dysplasia
C1867327	retinal arteries, tortuosity of
C0812437	oculo-dento-digital syndrome
C0339273	corneal dystrophy, lattice type 3
C1846980	senior-loken syndrome 3
C1842704	gaucher disease, perinatal lethal
C2752089	neuropathy, hereditary sensory and autonomic, type iia
C1846058	lubs x-linked mental retardation syndrome
C1846059	roifman syndrome
C0268647	lysinuric protein intolerance
C1862151	brachydactyly, type a1 (disorder)
C1853247	spastic paraplegia 31, autosomal dominant
C1853249	spinocerebellar ataxia 28
C1853248	deafness, autosomal recessive 65
C2673266	krabbe disease, atypical, due to saposin a deficiency
C1832817	klippel-feil deformity, conductive deafness, and absent vagina
C1847896	charcot-marie-tooth disease, dominant intermediate a
C0751122	infantile severe myoclonic epilepsy
C0266011	accessory nipple
C1832409	crisponi syndrome
C1843225	charcot-marie-tooth disease, axonal, type 2e (disorder)
C1849157	insulin-like growth factor i, resistance to
C0796102	orofaciodigital syndrome 9
C0334041	osteoma cutis
C0272170	shwachman syndrome
C0022521	kartagener syndrome
C0272167	reticular dysgenesis
C0238402	pycnodysostosis
C0544862	neurocutaneous melanosis
C0040953	trichotillomania
C0457013	weyers acrofacial dysostosis
C0949506	porokeratosis of mibelli
C0457014	hyperhidrosis, premature cavities and premolar aplasia
C1855849	bartter syndrome, antenatal , type 2
C1855840	hypoparathyroidism-retardation-dysmorphism syndrome
C0026896	myasthenia gravis
C0265309	leri-weill dyschondrosteosis
C0265308	baller-gerold syndrome
C1970236	microphthalmia, isolated 5
C1970237	microphthalmia, isolated 3
C0265306	greig cephalopolysyndactyly syndrome
C1970238	episodic kinesigenic dyskinesia 2
C1970239	deafness, autosomal recessive, 24
C2673257	epilepsy, progressive myoclonic 3
C0265301	sclerosteosis
C1841679	hand foot uterus syndrome
C1861456	stiff skin syndrome
C0013364	dysautonomia, familial
C0272199	familial hemophagocytic lymphocytosis
C1843633	myopathy, distal, with early respiratory failure, autosomal dominant
C2678061	scapuloperoneal myopathy, x-linked dominant
C1857809	deafness, autosomal recessive 44
C1832426	wilms tumor 4
C1843244	epilepsy, childhood absence, susceptibility to, 2
C1857802	morm syndrome
C1852406	beare-stevenson cutis gyrata syndrome
C1857800	corneal dystrophy, fuchs endothelial, 2
C1843247	charcot-marie-tooth disease, type 1d (disorder)
C0271789	hypothyroidism, congenital, nongoitrous, 4
C0338508	optic atrophy, autosomal dominant
C1970211	spinal muscular atrophy, distal, autosomal recessive, 4
C2749604	hemolytic uremic syndrome, atypical, susceptibility to, 1
C1832828	deafness, autosomal recessive 9
C1866328	convulsions, benign familial infantile, 1
C1849193	peeling skin syndrome
C1849192	skunk n-butylmercaptan, inability to smell
C0345893	juvenile polyposis syndrome
C3165522	goiter, multinodular 1, with or without sertoli-leydig cell tumors
C0338503	septo-optic dysplasia
C1832442	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
C1968593	respiratory distress syndrome in premature infants
C1832444	ectodermal dysplasia with natal teeth, turnpenny type
C1832443	pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
C1832440	microphthalmia, syndromic 8
C1853187	holoprosencephaly, recurrent infections, and monocytosis
C0431406	asymmetric crying face association
C1832855	choreoathetosis/spasticity, episodic
C0796140	oculodental syndrome rutherfurd syndrome
C1848519	waardenburg syndrome, type 4a
C2752027	glycogen storage disease xiii
C1842763	spondyloenchondrodysplasia with immune dysregulation
C1415477	hba1 gene
C0796147	acrocallosal syndrome
C1849115	spastic paraplegia 5a, autosomal recessive (disorder)
C0796139	rosselli-gulienetti syndrome
C1847866	homozygous 11p15-p14 deletion syndrome
C2752015	glycogen storage disease xiv
C0152171	idiopathic pulmonary hypertension
C1861401	symphalangism, distal
C1832845	usher syndrome, type id
C1415481	hbb gene
C0038505	sturge-weber syndrome
C1832841	epilepsy, familial adult myoclonic, 1
C1839333	epileptic encephalopathy, early infantile, 2
C1849128	spastic paraplegia 15, autosomal recessive
C0238052	xanthomatosis, cerebrotendinous
C1851710	lateral meningocele syndrome
C1970897	menopause, natural, age at, quantitative trait locus 1
C0796133	ramon syndrome
C0796135	renpenning syndrome 1
C0796137	3c syndrome
C2752001	growth retardation, developmental delay, coarse facies, and early death
C1851741	elliptocytosis 2 (disorder)
C1849140	spastic ataxia, charlevoix-saguenay type
C1843916	lissencephaly i
C1847874	phace association
C1838612	rhizomelic chondrodysplasia punctata, type 3
C0022541	kearns-sayre syndrome
C2677294	atrial fibrillation, familial, 6
C1839321	scarf syndrome
C2677299	cerebroretinal microangiopathy with calcifications and cysts (disorder)
C0271742	glucocorticoid deficiency with achalasia
C0796126	aicardi-goutieres syndrome 1
C0796124	corpus callosum, agenesis of, with abnormal genitalia
C0796121	primrose syndrome
C2752008	spastic paraplegia-50, autosomal recessive
C1839730	prieto x-linked mental retardation syndrome
C1853197	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
C0085548	autosomal recessive polycystic kidney disease
C1832475	deafness, autosomal dominant 11
C0394006	dysequilibrium syndrome
C0394005	ataxic cerebral palsy
C1858420	patent ductus arteriosus and bicuspid aortic valve with hand anomalies
C0033300	progeria
C1858424	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
C1838606	atrioventricular septal defect with blepharophimosis and anal and radial defects
C1838604	epilepsy, childhood absence, 1
C2676510	spondylocheirodysplasia, ehlers-danlos syndrome-like
C1853198	cold-induced sweating syndrome 2
C3179455	niemann-pick disease, type c1
C1858032	cortical defects, wormian bones, and dentinogenesis imperfecta
C1841658	progressive familial heart block, type ii
C1848526	pontocerebellar hypoplasia, type 2a
C1839311	scott bryant graham syndrome
C1858968	autoimmune lymphoproliferative syndrome, type iia
C1842797	exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
C1843920	coenzyme q10 deficiency
C2751643	glycogen storage disease ixc
C1848552	methylmalonic aciduria and homocystinuria, cbld type
C0019562	von hippel-lindau syndrome
C1863732	spondyloepimetaphyseal dysplasia with multiple dislocations
C1838254	rippling muscle disease 1
C1848029	ehlers-danlos syndrome caused by tenascin-x deficiency
C2931008	congenital disorder of glycosylation type 2a
C2674798	faciocardiomelic syndrome
C1832894	migraine, familial hemiplegic, 1
C0085083	ovarian hyperstimulation syndrome
C1838257	serpentine fibula polycystic kidney syndrome
C1865998	odontotrichoungual-digital-palmar syndrome
C1836841	ceroid lipofuscinosis, neuronal, 9 (disorder)
C1834703	neuronopathy, distal hereditary motor, type viia
C3151412	epilepsy with neurodevelopmental defects
C2751259	macrothrombocytopenia, autosomal dominant, tubb1-related
C1968556	encephalopathy, neonatal severe, due to mecp2 mutations
C1835044	melanoma, cutaneous malignant, 2
C1843691	minicore myopathy, antenatal onset, with arthrogryposis
C1968550	mental retardation, x-linked, syndromic 13
C1848947	cold-induced sweating syndrome 1
C1848030	hypotonia-cystinuria syndrome
C1858493	febrile convulsions, familial, 4
C1835398	li-fraumeni syndrome 1
C1857855	spastic paraplegia 29, autosomal dominant
C0796176	stuve-wiedemann syndrome
C1970859	atypical mycobacteriosis, familial, x-linked 2
C1838244	tibial muscular dystrophy, tardive
C1836173	generalized epilepsy and paroxysmal dyskinesia
C0796173	spondyloperipheral dysplasia short ulna
C0265998	anonychia
C1838625	warburg sjo fledelius syndrome
C2678011	deafness, cataract, retinitis pigmentosa, and sperm abnormalities
C1836182	chondrodysplasia, acromesomelic, with genital anomalies
C2678015	myopathy, reducing body, x-linked, childhood-onset
C1857355	leigh syndrome , french canadian type
C2751651	chromosome 19q13.11 deletion syndrome
C1855243	metaphyseal acroscyphodysplasia
C1306589	congenital dyserythropoietic anemia, type ii
C1864815	deafness, autosomal recessive 46 (disorder)
C2931919	x-linked infantile spasm syndrome
C1864818	deafness, autosomal recessive 42 (disorder)
C1838238	enteropathy, familial, with villous edema and immunoglobulin g2 deficiency
C0796160	mental retardation, x-linked, snyder-robinson type
C1863753	limb-mammary syndrome
C1848578	methylmalonic aciduria and homocystinuria, cblf type (disorder)
C1838230	spinal muscular atrophy, type iv
C1857345	deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome
C1858479	spastic paraplegia 11, autosomal recessive
C1838657	vitamin d hydroxylation-deficient rickets, type 1b
C1328349	neuropathy ataxia and retinis pigmentosa
C1836862	spondylometaphyseal dysplasia, type a4
C1864801	trichilemmal cyst 1
C1848561	methylmalonic acidemia with homocystinuria
C0796154	simpson-golabi-behmel syndrome, type 1
C1836199	deafness, autosomal recessive 48
C1862511	arrhythmogenic right ventricular dysplasia, familial, 1 (disorder)
C0751587	cadasil syndrome
C1836876	pierson syndrome
C2675857	chromosome 1q41-q42 deletion syndrome
C1857333	deafness oligodontia syndrome
C1857330	winkelman bethge pfeiffer syndrome
C0012236	digeorge syndrome
C0238463	papillary thyroid carcinoma
C1970827	phosphoribosylpyrophosphate synthetase superactivity
C2751297	tooth agenesis, selective, 6
C0205711	pelizaeus-merzbacher disease
C0205713	roussy-levy syndrome (disorder)
C0940352	evidence of previous duodenal surgery
C2748801	fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
C2751290	choroidal dystrophy, central areolar 2
C1848066	migraine, familial typical, susceptibility to, 2
C1970822	mental retardation, x-linked, syndromic 14
C2751686	lymphoproliferative syndrome, ebv-associated, autosomal, 1
C1868390	stoll levy francfort syndrome
C1857820	deafness, autosomal recessive 62
C0268242	niemann-pick disease, type a
C0751951	central core myopathy (disorder)
C0268243	niemann-pick disease, type b
C2673697	dystonia with cerebellar atrophy
C1857829	heart-hand syndrome, slovenian type
C1842160	myopathy, myosin storage (disorder)
C1864041	cerebral cavernous malformations 2
C1850270	optic atrophy polyneuropathy deafness
C1835009	mesomelic dysplasia, kantaputra type
C0751161	udpglucose 4-epimerase deficiency disease
C2678048	spinocerebellar ataxia, x-linked 5
C0265964	mutilating keratoderma
C1834741	nondisjunction
C0265962	ichthyosis linearis circumflexa
C0265961	erythrokeratodermia variabilis
C0039292	tangier disease
C1834759	macrosomia obesity macrocephaly ocular abnormalities
C1864828	alzheimer disease 10
C1864826	epidermolysis bullosa, lethal acantholytic
C1857811	deafness, autosomal recessive 49
C1848586	visceral myopathy familial external ophthalmoplegia
C2751698	santos syndrome
C0599973	waardenburg anophthalmia syndrome
C1836892	melanoma, cutaneous malignant, susceptibility to, 3
C1863704	spastic paraplegia 8, autosomal dominant
C2678055	myopathy, x-linked, with postural muscle atrophy (disorder)
C1857316	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
C1836899	spastic paraplegia 27, autosomal recessive (disorder)
C0268250	gaucher disease, type 2 (disorder)
C0268251	gaucher disease, type 3 (disorder)
C1843661	spastic paraplegia, ataxia, and mental retardation
C1865974	hypomagnesemia 1, intestinal
C1847406	digital arthropathy-brachydactyly, familial
C1970848	phosphoglycerate kinase 1 deficiency
C1864436	muenke syndrome
C2751666	bronchiectasis with or without elevated sweat chloride 2
C2239176	liver carcinoma
C1865044	parietal foramina 2
C0694889	rb1 gene
C1275808	congenital central hypoventilation
C1970841	mental retardation, x-linked 93 (disorder)
C0268228	neuraminidase 1 deficiency
C1970840	leukoencephalopathy with metaphyseal chondrodysplasia
C1864850	arrhythmogenic right ventricular dysplasia, familial, 11
C0268225	aspartylglucosaminuria
C1864852	catshl syndrome
C1864851	pigmented nodular adrenocortical disease, primary, 2
C1842186	nystagmus 3, congenital, autosomal dominant (disorder)
C1867801	preaxial deficiency, postaxial polydactyly and hypospadias
C1857301	dermatoosteolysis kirghizian type
C0031106	periodontitis, juvenile
C2678027	myopathy, reducing body, x-linked, early-onset, severe
C1838281	fryns macrocephaly
C1838280	epiphyseal dysplasia, multiple, 1
C0265971	acrokeratosis verruciformis of hopf
C1956125	alagille syndrome 1
C1864846	pigmented nodular adrenocortical disease, primary, 1 (disorder)
C0694899	wt2 gene
C1412610	serpinc1 gene
C0268238	triglyceride storage disease with ichthyosis
C1848097	spondyloepimetaphyseal dysplasia, x-linked
C0268237	cytochrome-c oxidase deficiency
C1864843	combined oxidative phosphorylation deficiency 2
C1842197	charcot-marie-tooth disease, recessive intermediate a
C1864840	combined oxidative phosphorylation deficiency 3
C0013312	dupuytren contracture
C2678036	craniofacioskeletal syndrome
C1865988	otofacioosseous-gonadal syndrome
C1850281	optic atrophy 6 (disorder)
C1843687	atrial fibrillation, familial, 1 (disorder)
C1850808	miyoshi myopathy
C1850807	musk, inability to smell
C0268155	deficiency of galactokinase
C1865643	cholestasis, progressive familial intrahepatic 3
C1837355	leukodystrophy, hypomyelinating, 2
C1834570	myoclonic dystonia
C3149842	mitochondrial dna depletion syndrome 4a (alpers type)
C0268579	propionic acidemia
C1855425	marles greenberg persaud syndrome
C0221054	welander distal myopathy
C0282207	cronkhite-canada syndrome
C0268151	classical galactosemia
C1826553	pcnt gene
C1865234	ichthyosis, hystrix-like, with deafness
C0393720	reflex epilepsy, photosensitive
C0023522	leukodystrophy, metachromatic
C1876203	frontonasal dysplasia
C0023521	globoid cell leukodystrophy
C0268575	isovaleryl-coa dehydrogenase deficiency
C0033847	pseudoxanthoma elasticum
C1862472	oculomelic amyoplasia
C1845243	mental retardation, x-linked, syndromic, claes-jensen type
C3149841	polycystic kidney disease 1
C0393729	immersion related epilepsy
C2676254	epilepsy, progressive myoclonic, 1b
C1842382	seizures, benign familial neonatal, 3
C0034960	refsum disease
C1842381	deafness, autosomal recessive 38
C0221061	behr syndrome
C0268149	glycogen storage disease type x
C0221060	mobius syndrome
C0024408	machado-joseph disease
C0268146	glucose-6-phosphate transport defect
C1414216	dystonia 6, torsion (disorder)
C1856016	hydrolethalus syndrome 1
C0268140	xeroderma pigmentosum, group f
C2931876	hirschsprung disease 1
C1879286	hereditary bundle branch system defect
C0543669	hereditary neutrophilia
C0406557	poikiloderma of kindler
C0016667	fragile x syndrome
C0162671	melas syndrome
C1847605	specific language impairment 2
C2676244	leukodystrophy, hypomyelinating, 6
C0033835	pseudopseudohypoparathyroidism
C1837756	mandibuloacral dysplasia with type b lipodystrophy
C1846367	spinocerebellar ataxia 19
C1851490	polycythemia, primary familial and congenital
C2700425	ehlers-danlos syndrome, dermatosparaxis type
C1837371	sudden infant death with dysgenesis of the testes syndrome
C0268179	congenital lactase deficiency
C1849438	renal dysplasia - limb defects syndrome
C0002395	alzheimer's disease
C0023931	lobstein's disease
C1849437	mainzer-saldino disease
C2931843	chondrodysplasia punctata 2, x-linked dominant
C1333989	meningioma, familial
C0221036	acrodermatitis enteropathica
C0685889	congenital hypoplasia of spleen
C1854664	lethal congenital contracture syndrome 1
C1418986	psen2 gene
C1854663	chudley-rozdilsky syndrome
C0036489	sea-blue histiocyte syndrome
C1834558	myopathy, centronuclear, 1
C1856934	epidermolysis bullosa with pyloric atresia
C1856936	epidermolysis bullosa simplex with muscular dystrophy
C0268553	hyperlysinemias
C2676271	cardiomyopathy, familial restrictive, 3 (disorder)
C1834144	sick sinus syndrome 2, autosomal dominant
C2674949	chromosome 3q29 deletion syndrome
C1864987	migraine, familial hemiplegic, 3
C2936880	spastic paraplegia 37, autosomal dominant (disorder)
C1861689	klippel-feil syndrome, autosomal dominant
C1836217	tukel syndrome
C1963674	spinocerebellar ataxia 10
C1842362	hermansky-pudlak syndrome 2
C1837342	muscular dystrophy, limb-girdle, type 2j
C0268164	primary hyperoxaluria, type i
C1854678	multiple pterygium syndrome, lethal type
C1842363	craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
C0268548	hyperargininemia
C1291230	3-hydroxyacyl-coa dehydrogenase deficiency
C1300226	greenberg dysplasia
C0268547	argininosuccinic aciduria
C0015499	factor v deficiency
C2751805	emery-dreifuss muscular dystrophy 5, autosomal dominant
C1836202	mental retardation, keratoconus, febrile seizures, and sinoatrial block
C2751807	emery-dreifuss muscular dystrophy 4
C0268542	ornithine carbamoyltransferase deficiency
C1837730	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
C1846385	focal cortical dysplasia of taylor
C0268543	hyperammonemia, type iii
C0268540	hhh syndrome
C2936879	spastic paraplegia 36, autosomal dominant
C0406578	juvenile hyaline fibromatosis
C1861678	charcot-marie-tooth disease, axonal, type 2a1
C1837739	hypertension, diastolic, resistance to
C1836206	syndactyly, mesoaxial synostotic, with phalangeal reduction
C3150943	long qt syndrome 2
C1866728	spondyloepimetaphyseal dysplasia with hypotrichosis
C1837317	myopathy, myofibrillar, 2, mfm2
C1842357	slowed nerve conduction velocity, autosomal dominant
C1855466	hypomagnesemia 5, renal, with ocular involvement
C0268193	nadh cytochrome b5 reductase deficiency
C0221011	malignant atrophic papulosis
C1842353	otosclerosis 3
C1855465	stargardt disease 1 (disorder)
C0003076	aniridia
C1850321	omphalocele exstrophy imperforate anus
C3148763	muscular dystrophy, limb-girdle, type 1e
C2673883	renal-hepatic-pancreatic dysplasia
C2681855	myp17 gene
C2680447	spg45 gene
C2678473	ciliary dyskinesia, primary, 7 (disorder)
C1861669	charcot-marie-tooth disease and deafness
C2678474	cardiomyopathy, dilated, 2a (disorder)
C0398788	immunodeficiency syndrome, variable
C1845202	nephrogenic syndrome of inappropriate antidiuresis
C2751831	myopathy, myofibrillar 6, mfm6
C0376515	bcl2 gene
C2677809	camptodactyly syndrome, guadalajara, type iii
C0221018	hereditary sideroblastic anemia
C0406502	hereditary benign telangiectasia (disorder)
C1384665	hfe gene
C0033806	pseudohypoparathyroidism
C0268181	nonpersistence of intestinal lactase
C1842345	deafness, autosomal recessive 40 (disorder)
C1836824	amish infantile epilepsy syndrome
C1837329	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
C1414525	fah gene
C0001860	ainhum
C1842342	deafness, autosomal recessive 39 (disorder)
C0268186	congenital glucose-galactose malabsorption
C0398777	factor h deficiency
C1854299	segawa syndrome, autosomal recessive
C0376524	branchio-oculo-facial syndrome
C1837713	joubert syndrome 3
C1857688	telangiectasia, hereditary hemorrhagic, type 4
C0035934	rubinstein-taybi syndrome
C0221026	x-linked agammaglobulinemia
C1865205	torsion dystonia with onset in infancy
C1842349	mandibulofacial dysostosis with ptosis, autosomal dominant
C1275089	ichthyosiform erythroderma, corneal involvement, deafness
C1862084	brachymesomelia renal syndrome
C1850718	myopathy with exercise intolerance, swedish type
C1275081	cardio-facio-cutaneous syndrome
C1850827	muscular hypertonia, lethal
C2676231	skeletal defects, genital hypoplasia, and mental retardation
C1850303	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
C2751855	hypomyelination, global cerebral
C1300257	thanatophoric dysplasia, type 2
C2678494	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
C0240912	vertical talus, congenital
C1843096	acrocapitofemoral dysplasia
C2674987	dandy-walker malformation with occipital cephalocele, autosomal dominant
C0268595	glutaric aciduria, type 1
C1842321	growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
C3150953	long qt syndrome 6
C1862092	sillence syndrome
C1275078	acrocephalopolysyndactyly type 2
C1849401	retinitis pigmentosa, deafness, mental retardation, and hypogonadism
C2931042	hawkinsinuria
C1850709	myopathy, hyaline body, autosomal recessive
C1849409	knobloch syndrome
C1833053	proprotein convertase 1/3 deficiency
C2700405	waardenburg syndrome, type iie
C2697310	sarcoidosis, susceptibility to, 1 (finding)
C0398791	nijmegen breakage syndrome
C3151211	osteogenesis imperfecta, type x
C0340037	young syndrome
C1843492	microphthalmia with cyst, bilateral facial clefts, and limb anomalies
C2931488	bustos simosa pinto cisternas syndrome
C1853578	neuroferritinopathy
C0268581	holocarboxylase synthetase deficiency
C1850314	ophthalmoplegia totalis with ptosis and miosis
C2751843	leukoencephalopathy, cystic, without megalencephaly
C1300260	spondyloepimetaphyseal dysplasia, sponastrime type
C2678486	temple-baraitser syndrome
C1850318	omodysplasia type 1
C1854273	radioulnar synostosis with amegakaryocytic thrombocytopenia
C0269269	inversion of nipple
C0008487	chordoma
C1857663	yunis varon syndrome
C1857662	coach syndrome
C3150156	immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
C1300264	brachyolmia - maroteaux type
C1843075	charcot-marie-tooth disease, dominant intermediate d
C1853949	myasthenia, familial infantile, 1
C2675227	endocrine-cerebroosteodysplasia
C1842316	craniosynostosis with ocular abnormalities and hallucal defects
C2677303	diastasis recti and weakness of the linea alba
C1840452	hyaloideoretinal degeneration of wagner
C1833541	caroli disease isolated
C1853566	genitopatellar syndrome
C1853153	joubert syndrome 6
C1142166	brugada syndrome (disorder)
C1850779	myeloproliferative disease, autosomal recessive
C1853942	citrullinemia, type ii, neonatal-onset
C1850889	muscular dystrophy, limb-girdle, type 2b
C0022350	jaundice, chronic idiopathic
C1866775	spinocerebellar ataxia and plaque-like deposits
C2750737	diarrhea 5, with tufting enteropathy, congenital
C1866777	spinal muscular atrophy, proximal, adult, autosomal dominant
C1859878	alopecia-mental retardation syndrome 1
C1866770	spinocerebellar ataxia with rigidity and peripheral neuropathy
C1867403	pyloric stenosis, infantile hypertrophic, 1
C1853556	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
C1848336	dent disease 1
C1853162	osteogenesis imperfecta, type vii
C1859487	biemond syndrome ii
C0010417	cryptorchidism
C0265354	charge syndrome
C0878677	danon disease
C0878676	6-pyruvoyl-tetrahydropterin synthase deficiency
C1846823	spinal muscular atrophy, distal, autosomal recessive, 3
C1866176	exudative vitreoretinopathy 4 (disorder)
C1291299	deficiency of iodide peroxidase (disorder)
C1866174	phosphoglycerate dehydrogenase deficiency
C2675204	polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
C1866784	neuronopathy, distal hereditary motor, type i
C2749279	tetraamelia, autosomal recessive
C1846816	congenital disorder of glycosylation, type iid
C0553586	cafe-au-lait macules with pulmonary stenosis
C1823105	spg35 gene
C0155912	pulmonary alveolar microlithiasis
C0472813	x-linked agammaglobulinemia with growth hormone deficiency
C2677326	epileptic encephalopathy, early infantile, 4
C0472817	whim syndrome
C2749665	split-hand/foot malformation 6 (disorder)
C1853139	optic atrophy 5 (disorder)
C1850864	muscular dystrophy, congenital, infantile with cataract and hypogonadism
C0340978	may-hegglin anomaly
C1868512	leukodystrophy, demyelinating, adult-onset, autosomal dominant
C2749282	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
C1853959	birdshot chorioretinopathy
C1868508	pelvis-shoulder dysplasia
C0342705	congenital defect of folate absorption
C0342708	gamma aminobutyric acid transaminase deficiency
C1861391	symphalangism with multiple anomalies of hands and feet
C0151970	ulcer of esophagus
C1148551	x-linked dyskeratosis congenita
C1853144	deafness, congenital, with inner ear agenesis, microtia, and microdontia
C3150191	congenital disorder of glycosylation, type iq
C1861380	syndactyly, type i
C0432316	epidermolysis bullosa simplex with mottled pigmentation
C0432317	epidermolysis bullosa simplex, ogna type
C1833503	deafness, autosomal dominant 4a
C0406586	wiedemann-rautenstrauch syndrome
C0406585	lethal tight skin contracture syndrome (disorder)
C0155930	tooth ankylosis
C1867439	pterygium, antecubital
C0268530	deficiency of pyrroline-5-carboxylate reductase
C0265328	alopecia epilepsy oligophrenia syndrome of moynahan
C1853118	severe congenital neutropenia
C0268532	deficiency of prolidase
C0265325	turcot syndrome (disorder)
C1846331	juvenile-onset dystonia
C1861385	symphalangism, proximal
C0265326	bannayan-riley-ruvalcaba syndrome
C1859439	microcephalic osteodysplastic primordial dwarfism, type 3
C0008029	cherubism
C1859432	blepharophimosis with ptosis, syndactyly, and short stature
C2677349	epidermolysis bullosa simplex with pyloric atresia
C1833508	carnitine palmitoyltransferase ii deficiency, late-onset
C1867443	haspeslagh fryns muelenaere syndrome
C1867449	psoriasis susceptibility 1
C0342727	3-@methylglutaconic aciduria, type i
C2674937	chromosome 10q26 deletion syndrome
C0265318	nevus, sebaceous of jadassohn
C1843042	craniolenticulosutural dysplasia
C1846862	parkinson disease 8 (disorder)
C0022387	jervell-lange nielsen syndrome
C1853124	nephrotic syndrome, type 3
C1856058	homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
C0268529	proline dehydrogenase deficiency
C1866138	cholestasis, progressive familial intrahepatic 2
C1866139	vacuolar neuromyopathy (disorder)
C1863416	autosomal dominant compelling helio ophthalmic outburst syndrome
C1843013	alzheimer disease, familial, type 3
C1840471	kozlowski celermajer tink syndrome
C0265345	lymphedema distichiasis syndrome
C1832112	multiple epiphyseal dysplasia with robin phenotype
C1850792	congenital myasthenic syndrome ib
C1853926	nonaka myopathy
C0546952	congenital facial asymmetry
C1861367	synpolydactyly 1
C0005689	bladder exstrophy
C1856972	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
C0265342	cerebro-costo-mandibular syndrome
C0265341	rieger syndrome
C0265344	donohue syndrome
C0878683	pituitary dwarfism type 3
C1840061	small patella syndrome
C0878682	ceruloplasmin deficiency
C1853508	atrioventricular septal defect, susceptibility to, 2
C0878684	short syndrome
C2931418	bare lymphocyte syndrome 2
C1860596	upington disease
C1859451	microcephalic osteodysplastic primordial dwarfism, type ii
C1859452	microcephalic osteodysplastic primordial dwarfism, type i
C1833511	carnitine palmitoyltransferase ii deficiency, infantile
C1852502	craniometaphyseal dysplasia, autosomal dominant
C3151293	cardiomyopathy, dilated, 1hh
C0265559	acheiropodia
C0265336	senter syndrome
C1846343	bartter syndrome, type 3
C1861355	syndactyly, type iv
C0546966	monilethrix
C0265338	coffin-siris syndrome
C0265339	borjeson-forssman-lehmann syndrome
C0265333	tricho-dento-osseous syndrome (disorder)
C0685838	gonadal dysgenesis xx type deafness
C1846843	epiphyseal dysplasia, multiple, 5
C3151295	hypomagnesemia 6, renal
C1833518	carnitine palmitoyltransferase ii deficiency, lethal neonatal
C1865699	progeroid facial appearance with hand anomalies
C0432322	dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
C1865695	spondylometaphyseal dysplasia, axial
C2363129	benign rolandic epilepsy
C0175713	aicardi's syndrome
C1855739	indifference to pain, congenital, autosomal recessive
C2940786	thyroid hormone resistance syndrome
C0796206	atkin syndrome
C1970344	congenital disorder of glycosylation, type iif
C1843512	brain small vessel disease with hemorrhage
C0342645	autosomal recessive hypophosphatemic bone disease
C0342642	autosomal dominant hypophosphatemic rickets
C2748783	vitamin d-dependent rickets, type 2b, with normal vitamin d receptor
C0342646	vitamin d-dependent rickets type ii with alopecia
C1855731	cholestasis, benign recurrent intrahepatic 1
C1852529	corticosteroid-binding globulin deficiency
C1416865	lipa gene
C1720779	apolipoprotein c-ii deficiency (disorder)
C1849055	brachyolmia, recessive hobaek type
C0432347	uncombable hair syndrome
C0206307	canavan disease
C0011854	diabetes mellitus, insulin-dependent
C0175702	williams syndrome
C0175701	aarskog syndrome
C0040028	thrombocythemia, essential
C1846790	joubert syndrome 4 (disorder)
C1861348	syndactyly, type v
C1844654	x-linked dyggve-melchior-clausen syndrome
C0266313	allanson pantzar mcleod syndrome
C0175704	leopard syndrome
C2676676	breast-ovarian cancer, familial, susceptibility to, 1
C0175703	thrombocytopenia-absent radius syndrome
C1832550	lamellar ichthyosis, type 2
C1838192	spastic paraplegia 6, autosomal dominant (disorder)
C1846796	anauxetic dysplasia
C1839235	taurodontism, microdontia, and dens invaginatus
C0206711	pilomatrixoma
C1848604	usher syndrome, type ic
C0014805	primary erythermalgia
C1832942	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (disorder)
C0342639	familial idiopathic hypercalciuria
C1849069	spondylocostal dysostosis with anal atresia and urogenital anomalies
C1842632	autism, susceptibility to, 3
C1843116	bile acid synthesis defect, congenital, 1
C0040015	thrombasthenia
C0796227	mental retardation, x-linked 21 (disorder)
C1852543	corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
C2677776	knobloch syndrome type iii
C0013261	duane retraction syndrome
C0013264	muscular dystrophy, duchenne
C1861313	synostosis, carpal, with dysplastic elbow joints and brachydactyly
C0032339	rothmund-thomson syndrome
C1832932	deafness, autosomal dominant 5 (disorder)
C1839264	spastic paraplegia 2, x-linked (disorder)
C1863006	ameloonychohypohidrotic syndrome
C0796220	mental retardation, x-linked 14
C0026764	multiple myeloma
C0950121	denys-drash syndrome
C0950122	frasier syndrome
C0026363	mohr syndrome
C2677787	lymphedema, hereditary, ib
C1832926	epidermolysis bullosa simplex, autosomal recessive (disorder)
C0391816	tietz syndrome
C2673377	mucolipidosis ii alpha/beta (disorder)
C0039373	tay-sachs disease
C1843504	pontocerebellar hypoplasia type 1
C1839259	spinal and bulbar muscular atrophy, x-linked 1
C1848392	zunich neuroectodermal syndrome
C1855722	baraitser-winter syndrome 1
C1849048	spondyloepiphyseal dysplasia tarda, toledo type
C2751312	bartter syndrome, type 4b
C0032357	poland syndrome
C0342683	albinism, oculocutaneous, type iii
C0026709	mucopolysaccharidosis vi
C1848651	al awadi syndrome
C1858854	megalencephalic leukoencephalopathy with subcortical cysts
C1849011	spondylometaepiphyseal dysplasia, short limb-hand type
C1970309	renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
C0342687	dopamine beta hydroxylase deficiency
C1832998	epiphyseal dysplasia, multiple, 3
C1861305	tarsal-carpal coalition syndrome
C0027832	neurofibromatosis 2
C0027831	neurofibromatosis 1
C1861303	synovitis, granulomatous, with uveitis and cranial neuropathies (disorder)
C1844696	otopalatodigital syndrome, type ii
C2751308	cone dystrophy 4 (disorder)
C1832594	verloes bourguignon syndrome
C1839615	myopathy, x-linked, with excessive autophagy (disorder)
C1851851	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
C1842679	thai symphalangism syndrome
C1852577	febrile convulsions, familial, 1 (disorder)
C1839612	myopia 1, x-linked
C0342282	multiple synostoses syndrome 1
C1276035	pena-shokeir syndrome type i
C0796237	mental retardation, x-linked 30
C1721007	pachyonychia congenita, type 2 (disorder)
C0342286	woodhouse sakati syndrome
C1842676	spinocerebellar ataxia, autosomal recessive 6 (disorder)
C0342288	insulin-dependent diabetes mellitus secretory diarrhea syndrome
C1847593	epiphyseal dysplasia, multiple, 4
C0342289	diabetes-deafness syndrome maternally transmitted (disorder)
C0796232	bohring syndrome
C1861301	syringomyelia, isolated
C2749757	bronchiectasis with or without elevated sweat chloride 1
C1852581	epilepsy, benign neonatal, 2
C1858338	neuropathy, hereditary motor and sensory, okinawa type
C1853995	seizures, benign familial infantile, 2
C1832567	muscular dystrophy, limb-girdle, type 1c
C1851841	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1
C1847582	lipodystrophy with congenital cataracts and neurodegeneration
C1848634	usher syndrome, type iia
C1852197	major affective disorder 1
C0349653	carbohydrate-deficient glycoprotein syndrome type i
C0024591	malignant hyperpyrexia due to anesthesia
C0271829	pendred's syndrome
C1858328	bile acid synthesis defect, congenital, 4
C0013295	duodenal ulcer
C1844678	progressive hearing loss stapes fixation
C2751324	bronchiectasis with or without elevated sweat chloride 3
C1857276	trichohepatoenteric syndrome
C1857277	donnai-barrow syndrome
C1847987	huntington disease-like 2
C0796250	partington x-linked mental retardation syndrome
C1863870	hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
C1876177	restless legs syndrome, susceptibility to, 1 (finding)
C1857762	olivopontocerebellar hypoplasia, fetal-onset
C0796280	acromegaloid facial appearance syndrome
C1969040	muscular dystrophy, limb-girdle, type 2m
C1857768	cataract, pulverulent, juvenile-onset
C1858351	spinocerebellar ataxia 11
C1864100	pseudohypoparathyroidism, type ib
C1969032	cataract, autosomal dominant, multiple types 1
C1869122	ehlers-danlos syndrome, progeroid form
C1869123	limb-girdle muscular dystrophy type 2a
C0238357	hyperkalemic periodic paralysis
C1857226	dk phocomelia syndrome
C0031269	peutz-jeghers syndrome
C1851413	exostoses, multiple, type ii
C0238358	hypokalemic periodic paralysis
C1836743	auditory neuropathy, autosomal dominant, 1
C0796272	brooks-wisniewski-brown syndrome
C1838103	mitochondrial myopathy and sideroblastic anemia
C0949691	spondylarthropathies
C0796271	sabinas brittle hair syndrome
C1367710	c5 gene
C1857751	migraine with or without aura, susceptibility to, 11
C1847555	hyperinsulinemic hypoglycemia, familial, 6
C1854369	spinocerebellar ataxia 14
C1864923	northern epilepsy syndrome
C1876161	ceroid lipofuscinosis, neuronal, 2
C1857752	migraine with or without aura, susceptibility to, 10
C0796279	carnevale syndrome
C1837805	charcot-marie-tooth disease, axonal, type 2g
C0796274	brown-vialetto-van laere syndrome
C1832099	wilms tumor and radial bilateral aplasia
C1864112	huntington disease-like 1
C1864111	myopia 3 (disorder)
C1850362	night blindness, congenital stationary, type 1b
C1969024	cardiomyopathy, dilated, 1x
C1869114	weill-marchesani syndrome, autosomal recessive
C0751885	myasthenic syndromes, congenital, slow channel
C1869117	paroxysmal nonkinesigenic dyskinesia
C1969029	lissencephaly 3
C1869118	hypothyroidism, congenital, due to thyroid dysgenesis
C2936904	opitz-frias syndrome
C1968668	leprosy, susceptibility to, 3
C1869115	weill-marchesani syndrome, autosomal dominant
C1855792	ichthyosiform erythroderma, congenital, nonbullous, 1
C1842687	pontocerebellar hypoplasia type 3 (disorder)
C1857747	neurodegeneration with brain iron accumulation 2 (disorder)
C1418533	phka2 gene
C1835171	hypomagnesemia 2, renal
C1864910	glutamine deficiency, congenital
C1855796	hypoproteinemia, hypercatabolic
C1864912	deficiency of 2-methylbutyryl-coa dehydrogenase
C1857242	rhizomelic chondrodysplasia punctata, type 2
C0399376	amelogenesis imperfecta, hypocalcification type
C0399379	dentin dysplasia, type 1
C0259771	steatocystoma multiplex
C0399378	dentinogenesis imperfecta - shield's type iii (disorder)
C0238378	desquamative interstitial pneumonia
C1836727	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
C2750247	polymicrogyria, asymmetric
C0242292	mccune-albright syndrome
C1842691	diaphanospondylodysostosis
C1836295	spastic paraplegia 28, autosomal recessive (disorder)
C1835672	keratoderma palmoplantar deafness
C1838126	brachydactyly-mental retardation syndrome
C1876185	dysgnathia complex
C1969052	meckel syndrome, type 5
C1876187	tumoral calcinosis, hyperphosphatemic, familial
C1864902	hyperinsulinemic hypoglycemia, familial, 7
C1847532	myopathy, distal, with anterior tibial onset
C1864900	retinal cone dystrophy 3a
C1969046	otosclerosis 4
C1850343	mosaic variegated aneuploidy syndrome
C0399368	amelogenesis imperfecta - hypoplastic autosomal dominant - local
C1858361	pyogenic sterile arthritis, pyoderma gangrenosum, and acne
C1969044	otosclerosis 7
C2931130	clark-baraitser syndrome
C2675711	dyschromatosis universalis hereditaria 1
C1851402	exudative vitreoretinopathy 1
C2750234	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
C1968689	hyper-immunoglobulin e syndrome, autosomal recessive
C1856476	gaucher disease, type iiic
C1969081	arrhythmogenic right ventricular dysplasia, familial, 12
C1855772	absent corpus callosum cataract immunodeficiency
C2676285	bone fragility with contractures, arterial rupture, and deafness
C1854336	paragangliomas 3
C1835664	tylosis with esophageal cancer
C0162635	angelman syndrome
C1847522	mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
C2931833	hyperinsulinemic hypoglycemia, familial, 2
C2676281	dystonia 17, torsion, autosomal recessive (disorder)
C0751434	classical phenylketonuria
C0023434	chronic lymphocytic leukemia
C2931832	hyperinsulinemic hypoglycemia, familial, 1
C1838163	osler-rendu-weber syndrome 2
C1838162	mesomelia-synostoses syndrome
C1838577	cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
C1864970	myopathy, limb-girdle, with bone fragility
C1838571	ceroid lipofuscinosis, neuronal, 7
C1864967	hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
C1838979	mitochondrial complex i deficiency
C1864968	deafness, autosomal recessive 51
C1864965	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
C1856465	ghosal hematodiaphyseal dysplasia
C0751039	cockayne syndrome, type i
C1864966	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
C1838570	ceroid lipofuscinosis, neuronal, 8
C0268119	combined molybdoflavoprotein enzyme deficiency
C0268118	deficiency of xanthine oxidase
C1858392	nephronophthisis 3
C0268117	partial hypoxanthine-guanine phosphoribosyltransferase deficiency
C2931826	potassium aggravated myotonia
C1835650	keratosis focal palmoplantar gingival
C0004135	ataxia telangiectasia
C1834653	muscular dystrophy, limb-girdle, type 1b (disorder)
C0399380	dentin dyspalsia, shields type 2
C0004943	behcet syndrome
C1834659	muscular dystrophy, limb-girdle, type 1a
C1843569	spastic paraplegia 24, autosomal recessive (disorder)
C1836797	combined oxidative phosphorylation deficiency 1
C1838568	sacral defect and anterior sacral meningocele
C2677763	stevenson-carey syndrome
C1857718	cataract, posterior polar, 5
C0268113	familial juvenile gout
C1835265	lymphedema, microcephaly and chorioretinopathy syndrome
C0751038	cockayne syndrome, type ii
C0751037	cockayne syndrome, type iii
C0030779	pelger-huet anomaly
C1837396	congenital disorder of glycosylation, type ie
C1865185	spondyloepimetaphyseal dysplasia, shohat type
C1847501	de vivo disease
C1275114	epidermolysis bullosa pruriginosa
C0015458	facial hemiatrophy
C1838180	codas syndrome
C1961835	gaucher disease, type 1
C1836765	limb-girdle muscular dystrophy, type 1g (disorder)
C1864952	hyperinsulinemic hypoglycemia, familial, 5
C0267466	stricture of colon
C1850395	neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
C2678408	pituitary hormone deficiency, combined, 4
C0268125	purine-nucleoside phosphorylase deficiency
C1849085	mousa al din al nassar syndrome
C0268126	adenylosuccinate lyase deficiency (disorder)
C1849088	spinocerebellar ataxia with dysmorphism
C1864948	hyperinsulinemic hypoglycemia, familial, 4
C1275126	tnf receptor-associated periodic fever syndrome (traps)
C2677745	hunter-macdonald syndrome
C1838547	melanoma-pancreatic cancer syndrome
C1849472	pyruvate kinase deficiency of red cells
C1834635	myasthenia, limb-girdle, autoimmune
C1836778	hemoglobin, high oxygen saturation of
C1275122	familial multiple trichoepitheliomata
C1862414	atelosteogenesis, type iii
C1850386	giant axonal neuropathy 1
C1864178	congenital disorder of glycosylation, type ic
C1849094	spinocerebellar ataxia, autosomal recessive 3
C1412756	bche gene
C0268136	xeroderma pigmentosum, group b
C1849096	infantile onset spinocerebellar ataxia
C1836373	muscular dystrophy, limb-girdle, type 2k
C1864668	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4
C1864669	neuronal ceroid lipofuscinosis due to cathepsin d deficiency
C0175683	citrullinemia
C0398689	hyper-igm immunodeficiency syndrome, type 1
C1845102	epileptic encephalopathy, early infantile, 8
C0393584	benign hereditary chorea
C0431693	familial hypoplastic, glomerulocystic kidney
C0271568	laron syndrome
C1855565	pyruvate dehydrogenase e2 deficiency
C1834478	macrothrombocytopenia and progressive sensorineural deafness
C1837822	burn-mckeown syndrome
C1865349	ethylmalonic encephalopathy
C0010346	crohn disease
C1834079	nystagmus 2, congenital, autosomal dominant (disorder)
C1865343	ossification of the posterior longitudinal ligament of spine
C1865342	febrile convulsions, familial, 2 (disorder)
C0175694	smith-lemli-opitz syndrome
C0175693	russell-silver syndrome
C0175692	johanson-blizzard syndrome
C0175691	dubowitz syndrome
C0393591	aicardi-goutieres syndrome
C0393590	fahr's syndrome (disorder)
C2675520	breast-ovarian cancer, familial, susceptibility to, 2
C0175699	saethre-chotzen syndrome
C0221757	alpha 1-antitrypsin deficiency
C2675526	neutropenia, severe congenital, 4, autosomal recessive
C0175697	van der woude syndrome
C2675527	myopathy, congenital, compton-north
C2675528	spastic paraplegia 42, autosomal dominant
C0175695	sotos' syndrome
C1855551	lambert syndrome
C1855553	pyruvate dehydrogenase e3-binding protein deficiency
C1851583	epiblepharon of lower lid
C1836395	spinocerebellar ataxia 26
C0016751	hereditary fructose intolerance syndrome
C1527336	sjogren's syndrome
C1863094	alopecia areata 1
C1527338	hereditary cerebral amyloid angiopathy, icelandic type
C0035828	romano-ward syndrome
C1863090	alopecia, epilepsy, pyorrhea, mental subnormality
C3150099	antley-bixler syndrome with genital anomalies and disordered steroidogenesis
C1864689	microphthalmia, syndromic 6 (disorder)
C0271582	isolated lutropin deficiency (disorder)
C1837845	sick sinus syndrome 1, autosomal recessive
C0008928	cleidocranial dysplasia
C1969758	fetal hemoglobin quantitative trait locus 5 (disorder)
C0016756	fructose-1,6-diphosphatase deficiency
C0008925	cleft palate
C1836706	hyperthyroidism, nonautoimmune
C1865322	migraine, familial hemiplegic, 2
C0010324	crigler-najjar syndrome
C1851573	transient bullous dermolysis of the newborn
C1836383	spinocerebellar ataxia 27
C0027341	nail-patella syndrome
C0555206	chiari malformation type ii
C0393571	multiple system atrophy
C0018609	hartnup disease
C0393576	chorea acanthocytosis syndrome
C1868617	paramyotonia congenita of von eulenburg
C1864695	giant axonal neuropathy, autosomal dominant
C3149378	immunodeficiency, common variable, 1
C1837830	ulnar/fibular ray defect and brachydactyly
C0694566	atypical mycobacterial infection, disseminated
C1866095	deafness, autosomal dominant 13
C0043207	wolfram syndrome
C0158667	congenital absence of salivary gland
C1855577	erythrocyte lactate transporter defect
C1843782	migraine with or without aura, susceptibility to, 3
C0750927	apraxia, developmental verbal
C0263637	angioma serpiginosum, x-linked
C0750929	arnold-chiari malformation, type i
C1836336	charcot-marie-tooth disease, type 4h
C1843786	dystonia 15, myoclonic
C1865370	severe combined immunodeficiency with sensitivity to ionizing radiation
C0406709	hay-wells syndrome
C1845146	holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
C2751938	cerebral palsy, spastic quadriplegic, 1
C1840392	hyperpigmentation, familial progressive
C1857571	corneal degeneration, band-shaped spheroid
C3151126	meier-gorlin syndrome 5
C0343111	naegeli syndrome
C1849792	achromatopsia 3
C0406702	ectodermal dysplasia, hypohidrotic, autosomal recessive
C3151120	meier-gorlin syndrome 4
C2675556	encephalopathy, acute, infection-induced, 3, suceptibility to
C1865384	amyotrophy, monomelic
C1843773	migraine without aura, susceptibility to, 4
C1843771	migraine with or without aura, susceptibility to, 5
C1857588	amaurosis hypertrichosis
C1833831	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
C1836327	rhabdoid tumor predisposition syndrome 1 (disorder)
C1845136	chromosome xp11.3 deletion syndrome
C0406718	woolly hair, hypotrichosis, everted lower lip and outstanding ears
C0079474	hallopeau-siemens disease
C1843776	bulimia nervosa, susceptibility to, 1 (finding)
C0393559	troyer syndrome
C0751779	action myoclonus-renal failure syndrome
C2931355	spastic paraplegia 3, autosomal dominant
C0878555	diffuse panbronchiolitis
C1864649	myasthenia, limb-girdle, with tubular aggregates
C1838491	kuzniecky syndrome
C2931746	sulfocysteinuria
C0751748	nonketotic hyperglycinemia
C1854568	spastic paraplegia 14, autosomal recessive (disorder)
C2675185	kahrizi syndrome
C1969710	autism, susceptibility to, 8
C1842036	giant pigmented hairy nevus
C3151107	retinitis pigmentosa 40 (disorder)
C2675184	exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
C1845668	perisylvian syndrome
C0406723	growth retardation, alopecia, pseudoanodontia and optic atrophy
C2675180	myopia 15 (disorder)
C0406724	trichodental syndrome
C1837884	larsen-like syndrome
C0406727	orofaciodigital syndrome 4
C0406726	orofaciodigital syndrome 3
C1845116	nystagmus 5, congenital, x-linked
C1854961	motor neuropathy peripheral with dysautonomia
C1868659	pancreas agenesis, dorsal
C1865361	short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
C1854965	morquio syndrome c
C0037231	sjogren-larsson syndrome
C0751753	carbamoyl-phosphate synthase i deficiency disease
C0016788	fucosidase deficiency disease
C1843792	frontotemporal dementia, ubiquitin-positive
C1837009	dyslexia, susceptibility to, 8
C1853445	parkinson disease 7, autosomal recessive early-onset
C0393538	muscular atrophy, spinal, type ii
C3151113	meier-gorlin syndrome 3
C0406733	curly hair-ankyloblepharon-nail dysplasia syndrome
C1421374	urod gene
C1864653	glaucoma 1, open angle, m (disorder)
C0398691	hyperimmunoglobulinemia d
C1864652	growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
C0406735	hypoplastic enamel-onycholysis-hypohidrosis syndrome
C3150681	cardiomyopathy, dilated, 1r
C1866029	keratosis linearis with ichthyosis congenita and sclerosing keratoderma
C0403399	finnish congenital nephrotic syndrome
C0432213	autosomal recessive spondyloepimetaphyseal dysplasia
C0432210	nance sweeney chondrodysplasia
C1849805	euhidrotic ectodermal dysplasia
C2750787	weill-marchesani-like syndrome
C0025235	melkersson-rosenthal syndrome
C1848221	intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
C1858726	congenital cataracts, facial dysmorphism, and neuropathy
C0342853	sialuria
C1704423	milroy disease
C2677481	ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant
C0025237	melnick-needles syndrome
C0220776	late spondyloepiphyseal dysplasia
C0432219	opsismodysplasia
C1837429	pyruvate dehydrogenase phosphatase deficiency
C1860238	woolly hair, autosomal dominant
C0432215	progressive pseudorheumatoid dysplasia
C0432217	wolcott-rallison syndrome
C0476287	breath-holding spell
C1862373	axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
C1837896	congenital disorder of glycosylation, type ik
C1834929	microgastria limb reduction defect
C1861238	arthrogryposis, distal, type 10
C1856603	gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
C1832162	hypotrichosis, congenital, with juvenile macular dystrophy
C1847089	usher syndrome, type ig
C3149750	mitochondrial dna depletion syndrome 2 (myopathic type)
C0729582	floating-harbor syndrome
C0220769	fg syndrome
C0220766	congenital hypoplasia of adrenal gland
C0220767	craniofrontonasal dysplasia
C3151568	nephrotic syndrome, type 4
C0432208	lethal kniest-like syndrome
C1833872	ophthalmomandibulomelic dysplasia
C1860224	ablepharon-macrostomia syndrome
C0432209	dyssegmental dysplasia, rolland-desbuquois type
C1291564	deficiency of aromatic-l-amino-acid decarboxylase
C1968804	plasminogen deficiency, type i
C1839503	otopalatodigital syndrome, type i
C1846284	glucocorticoid deficiency 2
C2673923	amelogenesis imperfecta, type ic
C1866008	muscular dystrophy, limb-girdle, type 2g
C3151140	pontocerebellar hypoplasia, type 2d
C1866855	spastic paraplegia 4, autosomal dominant
C1854520	sebastian syndrome
C1859317	cataract and cardiomyopathy
C2748572	sesame syndrome
C0220754	biotinidase deficiency
C2678194	mental retardation, x-linked, syndromic, christianson type
C1848805	thyroid dyshormonogenesis 1
C1850451	ceroid lipofuscinosis, neuronal, 1
C1859722	arthrogryposis renal dysfunction cholestasis syndrome
C1836315	epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
C1845168	hypophosphatemic rickets, x-linked recessive
C1843765	migraine with or without aura, susceptibility to, 6
C1859726	arterial tortuosity syndrome
C2749864	mitochondrial dna depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
C1859725	arteriosclerosis, severe juvenile
C1840378	brachycephalofrontonasal dysplasia
C1568247	usher syndrome, type i
C1568248	usher syndrome, type iii
C1849700	hyperphenylalaninemia with primapterinuria
C1853480	mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
C1855109	methylmalonic aciduria cbla type
C1832187	deafness, autosomal dominant 12
C0025221	meleda disease
C1848818	thumb agenesis, short stature, and immunodeficiency
C1858712	spastic paraplegia 10, autosomal dominant
C3150654	deafness, autosomal recessive 84
C2673914	anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
C2750798	polymicrogyria with optic nerve hypoplasia
C1855100	methylmalonyl-coa epimerase deficiency
C1845151	glycogen storage disease, type ixd
C2749873	chromosome 3q29 duplication syndrome
C0016037	fibrodysplasia ossificans progressiva
C0220743	childhood hypophosphatasia (disorder)
C1850442	ceroid lipofuscinosis, neuronal, 5
C0017168	gastroesophageal reflux disease
C1858717	facial paresis, hereditary, congenital
C1846685	spastic paraplegia 19, autosomal dominant (disorder)
C0220748	cartilage-hair hypoplasia
C0745103	hyperlipoproteinemia type iia
C0342849	beta-mannosidosis
C0041343	tubo-ovarian abscess
C1836307	epiphyseal dysplasia, multiple, with miniepiphyses
C1855102	methylmalonic aciduria cblb type
C2748587	hypoglossia with situs inversus
C3150644	brachydactyly, type e2
C0162532	variegate porphyria
C1846265	microphthalmia, syndromic 2
C0162531	hereditary coproporphyria
C0162530	porphyria, erythropoietic
C1424914	sczd10 gene
C0917800	epilepsy, myoclonic, infantile
C1849719	polysyndactyly with cardiac malformation
C2750404	fibrosis of extraocular muscles, congenital, 3c
C1846672	muscular dystrophy, limb-girdle, type 2i
C0220730	fryns syndrome
C1866423	quebec platelet disorder
C1837462	ehlers-danlos syndrome, beasley cohen type
C2673536	combined cellular and humoral immune defects with granulomas
C1866075	glomerulopathy with fibronectin deposits 2 (disorder)
C1292230	lulu phenotype
C1859385	brachymetapody-anodontia-hypotrichosis-albinoidism
C1833373	inclusion body myopathy autosomal recessive
C1849722	polyglucosan body disease, adult form
C1866079	bone mineral density quantitative trait locus 1
C1968843	microphthalmia, isolated, with coloboma 5 (disorder)
C0339512	bull's eye macular dystrophy
C0024145	chilblain lupus
C1968847	epilepsy, familial temporal lobe, 4
C1853892	dimethylglycine dehydrogenase deficiency
C1968848	epilepsy, familial temporal lobe, 3
C1968845	primary lateral sclerosis, adult, 1
C1968846	febrile seizures, familial, 9
C0024141	lupus erythematosus, systemic
C0220726	diastrophic dysplasia
C0220724	constricting bands, congenital
C0268059	neonatal hemochromatosis
C0158683	polycystic liver disease
C1859773	microphthalmia, syndromic 3
C0220722	cerebro-oculo-facio-skeletal syndrome
C1837454	spinocerebellar ataxia 8
C1859359	camptodactyly syndrome, guadalajara type i
C1860605	bork stender schmidt syndrome
C2674051	inflammatory bowel disease 11
C1837492	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
C1849732	polydactyly, postaxial, with dental and vertebral anomalies
C1969796	ataxia, spastic, 2, autosomal recessive (disorder)
C1859353	candidiasis familial chronic mucocutaneous, autosomal recessive
C1847720	glycine n-methyltransferase deficiency
C1623209	okihiro syndrome
C1847725	spinocerebellar ataxia 15
C1864186	cdags syndrome
C0282160	aplasia cutis congenita
C0812385	bcr gene
C1840333	barakat syndrome
C1849348	richieri costa pereira syndrome
C0220710	medium-chain acyl-coenzyme a dehydrogenase deficiency
C0238198	gastrointestinal stromal tumors
C3150619	neuronopathy, distal hereditary motor, type iic
C1841854	gms syndrome
C0877024	schimke immunoosseous dysplasia
C0238190	inclusion body myositis (disorder)
C0152438	sprengel deformity
C1860614	ulnar hypoplasia
C1850406	navajo neurohepatopathy
C1835614	hyperexplexia hereditary
C1837481	spondyloepimetaphyseal dysplasia, matrilin-3 related
C0025267	multiple endocrine neoplasia type 1
C0025268	multiple endocrine neoplasia type 2a
C0025269	multiple endocrine neoplasia type 2b
C1848213	periventricular heterotopia, x-linked
C1969785	muscular dystrophy, limb-girdle, type 2l (disorder)
C1417917	oat gene
C1531773	currarino triad
C0162568	erythropoietic protoporphyria
C0162565	acute intermittent porphyria
C1861736	spinocerebellar ataxia 31 (disorder)
C1959626	mevalonic aciduria
C3151194	epilepsy, progressive myoclonic 5
C1866802	speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease
C0220704	shprintzen syndrome
C1861732	spinocerebellar ataxia 29
C0039445	hereditary hemorrhagic telangiectasia
C1849334	robinow syndrome, autosomal recessive
C0220708	vater association
C0342801	thiopurine s methyltranferase deficiency
C0342803	dihydropyrimidinase deficiency
C0221348	hereditary lymphedema and yellow nails
C3150607	chromosome 17q23.1-q23.2 deletion syndrome
C1837475	insulin-like growth factor i deficiency
C1959620	dihydropyrimidine dehydrogenase deficiency
C0238286	mucolipidosis type iv
C1859062	long qt syndrome 3
C1852222	failure of tooth eruption, primary
C0403445	fechtner syndrome (disorder)
C0432288	dermochondrocorneal dystrophy of franã§ois
C1847614	specific language impairment 1
C0432283	osteoglophonic dwarfism
C1720859	familial partial lipodystrophy, type 1
C1720860	familial partial lipodystrophy, type 2
C1832600	naxos disease
C1720862	congenital generalized lipodystrophy type 1
C1720861	familial partial lipodystrophy, type 3
C1420352	spg5b gene
C1720863	congenital generalized lipodystrophy type 2
C1842534	dystonia 18 (disorder)
C0032897	prader-willi syndrome
C0751337	x-linked emery-dreifuss muscular dystrophy
C0268418	deficiency of glycerol kinase
C1842531	epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
C1858680	familial encephalopathy with neuroserpin inclusion bodies
C0268412	infantile hypophosphatasia
C0268413	adult hypophosphatasia (disorder)
C1847627	dyskinesia, familial, with facial myokymia
C2674508	leukodystrophy, hypomyelinating, 5
C1839580	nystagmus 1, congenital, x- linked
C1970431	pitt-hopkins syndrome
C0432292	familial expansile osteolysis
C0432291	mandibuloacral dysostosis
C1839566	charcot-marie-tooth disease, x-linked recessive, 5
C0238261	lymphedema praecox
C0795998	jackson-weiss syndrome
C1858266	bare lymphocyte syndrome, type i
C1856197	kleiner holmes syndrome
C0795996	striatonigral degeneration, infantile (disorder)
C1856198	hall riggs mental retardation syndrome
C0272302	gray platelet syndrome
C1839163	thrombocytopenia 1 (disorder)
C0282526	hyperpipecolic acidemia
C0282527	infantile refsum disease (disorder)
C1839161	thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
C0432269	lenz majewski hyperostotic dwarfism
C0432268	osteopathia striata cranial sclerosis
C1858673	generalized epilepsy with febrile seizures plus, type 2
C0432262	dysosteosclerosis
C0008525	choroideremia
C1857143	dysmyelination with jaundice
C1857144	dyskeratosis congenita, autosomal recessive, 1
C1413595	col9a1 gene
C2607929	carney complex, type 1
C0032460	polycystic ovary syndrome
C1856184	hemihyperplasia, isolated
C0032463	polycythemia vera
C2678503	axenfeld-rieger syndrome, type 3
C1858278	charcot-marie-tooth disease, type 4b2
C1856186	deafness enamel hypoplasia nail defects
C1855055	microcephaly with spastic quadriplegia
C1970414	osteogenesis imperfecta, type v
C1842550	muscular dystrophy, limb-girdle, type 2d
C1849386	myoglobinuria, acute recurrent, autosomal recessive
C0008533	hemophilia b
C1851970	dyskeratosis congenita, autosomal dominant
C0432273	worth disease
C1847640	kufor-rakeb syndrome
C0342793	malonic aciduria
C1332830	cyp2d6 gene
C1366370	f8 gene
C1855008	mitochondrial complex ii deficiency
C2750355	omodysplasia 2
C1838099	abcd syndrome
C0220685	achondrogenesis type 2
C0342789	carnitine palmitoyltransferase i deficiency
C0220687	kbg syndrome
C1264039	von willebrand disease, type 1
C0342788	renal carnitine transport defect
C0342786	mitochondrial trifunctional protein deficiency
C0027708	nephroblastoma
C2677897	spastic paraplegia 34, x-linked (disorder)
C0342783	deficiency of butyryl-coa dehydrogenase
C0751360	becker generalized myotonia
C0342784	vlcad deficiency
C1847650	spongiform encephalopathy with neuropsychiatric features
C0042133	uterine fibroids
C1860265	wilms tumor 3
C3150596	mononeuropathy of the median nerve, mild
C1846707	spinocerebellar ataxia 17
C0432242	desbuquois syndrome
C0432243	spondyloepimetaphyseal dysplasia with joint laxity
C1836683	czech dysplasia, metatarsal type
C1860157	elejalde syndrome
C0206141	idiopathic hypereosinophilic syndrome
C1838877	myoglobinuria, recurrent
C1867450	pseudoxanthoma elasticum, incomplete
C1970470	surfactant metabolism dysfunction, pulmonary, 2 (disorder)
C0342770	fumarase deficiency
C1970472	pulmonary alveolar proteinosis, acquired
C0344505	alacrima
C0342773	pearson's marrow-pancreas syndrome
C1868118	orofaciodigital syndrome 5
C0432250	osteogenesis imperfecta, type 2b
C0432254	singleton merten syndrome
C0432252	osteoporosis with pseudoglioma
C1851994	dwarfism, levi type
C1306856	megaloblastic anemia due to inborn errors of metabolism
C1835564	larsen syndrome, autosomal dominant (disorder)
C1836694	striatal degeneration, autosomal dominant
C1843004	hypotrichosis-lymphedema-telangiectasia syndrome
C1843003	mitral valve prolapse, myxomatous 2
C0432227	brachyrachia (short spine dysplasia)
C1720416	episodic ataxia type 2 (disorder)
C0220668	congenital contractural arachnodactyly
C1864233	endplate acetylcholinesterase deficiency (disorder)
C0546476	multiple self-healing squamous epithelioma
C0220663	blepharophimosis, ptosis, and epicanthus inversus (disorder)
C0220666	arthrogryposis multiplex congenita, distal, type iia
C2677491	cardiomyopathy, familial hypertrophic, 12
C0220662	arthrogryposis, distal, type 1
C0016395	focal dermal hypoplasia
C0011989	camurati-engelmann syndrome
C0085292	stiff-person syndrome
C1850096	pancreatic agenesis, congenital
C0432225	metaphyseal chondrodysplasia spahr type
C1853833	parkinson disease 6, autosomal recessive early-onset
C0432221	spondylometaphyseal dysplasia, 'corner fracture' type
C0432239	kyphomelic dysplasia
C1859093	chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
C1847013	nephronophthisis 4
C1428293	slx4 gene
C1970456	surfactant metabolism dysfunction, pulmonary, 3
C1970458	osteogenesis imperfecta, type viii
C2750887	epilepsy, idiopathic generalized, susceptibility to, 9
C1868139	medullary cystic kidney disease 1
C1291609	deficiency of ribose-5-phosphate isomerase
C0432235	cranioectodermal dysplasia
C1860166	acrorenal mandibular syndrome
C0432233	trichorhinophalangeal dysplasia type i
C0432231	nievergelt syndrome
C1859807	amyotrophic lateral sclerosis 2, juvenile (disorder)
C0432230	langer mesomelic dysplasia syndrome
C0022336	creutzfeldt-jakob disease
C2676732	spastic paraplegia 38, autosomal dominant (disorder)
C0030421	paraganglioma
C1837028	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
C1865022	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
C1838062	epilepsy, lateral temporal lobe, autosomal dominant
C0038358	gastric ulcer
C0399440	hereditary gingival fibromatosis
C0587248	costello syndrome (disorder)
C0795936	faciocardiorenal syndrome
C1969807	dystonia, focal, task-specific
C0270952	muscular dystrophy, oculopharyngeal
C0268494	oculocutaneous albinism type 1
C0268495	oculocutaneous albinism type 2
C1851102	fibrosis of extraocular muscles, congenital, 1
C0000744	abetalipoproteinemia
C1837014	atrial fibrillation, familial, 3
C1837015	ataxia, sensory, autosomal dominant
C2936782	branchiootorenal syndrome 1
C0017495	gerstmann-straussler-scheinker disease
C2936781	generalized myotonia of thomsen
C1838429	epiphyseal dysplasia, multiple, 2
C0001080	achondroplasia
C1838049	epilepsy, nocturnal frontal lobe, type 1
C1868546	patterson pseudoleprechaunism syndrome
C1865290	hyperinsulinemic hypoglycemia, familial, 3
C1412046	a2m gene
C1865295	auriculo-condylar syndrome
C0022739	klippel-trenaunay-weber syndrome
C0268465	phenylketonuria ii
C1850055	peho syndrome
C0268467	gtp cyclohydrolase i deficiency
C0268468	sepiapterin reductase deficiency
C2676759	thrombophilia due to protein c deficiency, autosomal recessive
C1834523	arthrogryposis, distal, type 2b
C0028860	oculocerebrorenal syndrome
C1412468	apoa1 gene
C0270972	cornelia de lange syndrome
C1868570	char syndrome
C1856113	mowat-wilson syndrome
C1865285	megalencephaly cutis marmorata telangiectatica congenita
C1868577	patella aplasia-hypoplasia
C0795917	alpha-thalassemia/mental retardation syndrome, chromosome 16-related
C1836673	branchiogenic-deafness syndrome
C0242387	mandibulofacial dysostosis
C0268474	hydroxykynureninuria
C1412471	apob gene
C1844020	heterotaxy, visceral, 1, x-linked
C0085261	proteus syndrome
C1852294	darwinian tubercle of pinna
C1850040	pelviscapular dysplasia
C0751781	dentatorubral-pallidoluysian atrophy
C0751785	unverricht-lundborg syndrome
C0751783	lafora disease
C0543514	glycogen storage disease, type ixb
C1838023	mental retardation, autosomal recessive 3
C0035372	rett syndrome
C0022716	menkes kinky hair syndrome
C0270968	limb-girdle muscular dystrophy type 2h
C1719788	episodic ataxia type 1
C1865270	bartter syndrome, type 4a
C0795905	hypertrichotic osteochondrodysplasia
C0079541	holoprosencephaly
C2608087	neuronopathy, distal hereditary motor, type iib
C0410203	x-linked centronuclear myopathy
C1836602	bruck syndrome 2
C2675609	osteoarthritis susceptibility 3
C1855477	dahlberg borer newcomer syndrome
C0023374	lesch-nyhan syndrome
C1275685	avellino corneal dystrophy
C1837065	cd8 deficiency, familial
C1852267	optic atrophy 1 and deafness
C1608393	megacystis microcolon intestinal hypoperistalsis syndrome
C1868598	parietal foramina
C0268448	primary hypomagnesemia (disorder)
C1851920	dystonia, dopa-responsive
C2676772	microtia, hearing impairment, and cleft palate
C0270911	charcot-marie-tooth disease, type ia (disorder)
C0270912	charcot-marie-tooth disease, type ib
C1837073	spondylometaphyseal dysplasia with cone-rod dystrophy
C2936739	hyper-immunoglobulin e syndrome, autosomal dominant
C0270913	charcot-marie-tooth disease, type 1c
C1842564	temporal epilepsy, familial
C1868193	pneumothorax, primary spontaneous
C1855089	microcephalic primordial dwarfism toriello type
C1836607	myotilinopathy
C1868594	perry syndrome
C0410207	tubular aggregate myopathy
C2751492	amyloidosis, hereditary, transthyretin-related
C0410204	autosomal recessive centronuclear myopathy
C1704981	hyperparathyroidism-jaw tumor syndrome
C1855081	microcephaly, primary autosomal recessive, 1
C1851526	ancell-spiegler cylindromas
C0410214	lipid storage myopathy
C0010273	craniofacial dysostosis
C1843463	ichthyosis, cyclic, with epidermolytic hyperkeratosis
C1970005	asphyxiating thoracic dystrophy 2
C0268450	gitelman syndrome
C1857619	coloboma of macula and skeletal anomalies
C1970009	spastic paraplegia 32, autosomal recessive
C1857618	achromatopsia 2
C0346302	growth hormone-secreting pituitary adenoma
C1842577	joubert syndrome 2
C1856128	hepatic venoocclusive disease with immunodeficiency
C0398764	factor d deficiency
C0004903	beckwith-wiedemann syndrome
C1838009	knobloch syndrome type ii
C1856127	bile acid synthesis defect, congenital, 2
C1842572	congenital disorder of glycosylation, type ij
C0015306	hereditary multiple exostoses
C0795969	hardikar syndrome
C1863199	alacrima, congenital
C1837915	erythrocytosis, familial, 2
C1855499	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
C0795950	corpus callosum agenesis neuronopathy
C1843478	lethal congenital contracture syndrome 2
C0023003	langer-giedion syndrome
C1836621	glucocorticoid deficiency 3 (disorder)
C1335929	schwannomatosis
C1851112	jones syndrome
C1415618	hmi gene
C1839112	widow's peak syndrome
C2751864	stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features
C0398738	leukocyte adhesion deficiency type 1
C1842586	neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux
C1856159	urioste martinez-frias syndrome
C1851945	dystonia 1, torsion, autosomal dominant
C0268425	alstrom syndrome
C1837091	myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
C1851943	dystonia 4, torsion, autosomal dominant (disorder)
C0085215	ovarian failure, premature
C1268935	congenital thrombotic thrombocytopenic purpura
C0795956	chylomicron retention disease
C0795959	gomez lopez hernandez syndrome
C0795953	masa syndrome (disorder)
C0398739	congenital disorder of glycosylation, type 2c
C1832669	spastic paraplegia 9, autosomal dominant (disorder)
C1836632	spastic paraplegia 26, autosomal recessive (disorder)
C1842983	charcot-marie-tooth disease, axonal, type 2k
C1836635	loeys-dietz aortic aneurysm syndrome
C2750805	chromosome 5p13 duplication syndrome
C2676788	joubert syndrome 9 (disorder)
C1839125	say meyer syndrome
C2751870	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
C1851120	hypertrichosis terminalis, generalized, with or without gingival hyperplasia
C0079504	hermanski-pudlak syndrome
C1839130	dystonia 3, torsion, x-linked
C2676782	nephrolithiasis/osteoporosis, hypophosphatemic, 2
C2751878	hadziselimovic syndrome
C2676786	nephrolithiasis/osteoporosis, hypophosphatemic, 1
C0795949	galloway mowat syndrome
C0795947	onat syndrome
C1832661	anophthalmia and pulmonary hypoplasia
C2677843	episodic ataxia, type 7
C1844936	spinocerebellar ataxia, x-linked 3
C2608083	cholestasis, benign recurrent intrahepatic 2
C0795944	fountain syndrome
C0043194	wiskott-aldrich syndrome
C0795942	fitzsimmons-guilbert syndrome
C1834877	holoprosencephaly 2 (disorder)
C2931276	spastic paraplegia 17
C2677500	oculoauricular syndrome
C1854896	mucolipidosis iii gamma
C0017921	glycogen storage disease type ii
C0017920	glycogen storage disease type i
C0403812	infertility associated with multi-tailed spermatozoa and excessive dna
C1854488	spinocerebellar ataxia 13
C0473219	renal hypouricemia
C0422883	dominance, ocular
C0017926	glycogen storage disease type vii
C0017924	glycogen storage disease type v
C0403814	congenital bilateral aplasia of vas deferens
C0017922	glycogen storage disease type iii
C0017923	glycogen storage disease type iv
C2677506	cardiomyopathy, familial hypertrophic, 11
C1970149	paroxysmal nonkinesigenic dyskinesia 2 (disorder)
C1834372	narcolepsy 1
C2931264	arthrogryposis multiplex congenita
C1970130	angioma serpiginosum, autosomal dominant
C0917796	optic atrophy, hereditary, leber
C2677109	leukodystrophy, hypomyelinating, 4
C1842109	microcephaly 6, primary, autosomal recessive
C0271695	rabson-mendenhall syndrome
C2931674	ceroid lipofuscinosis, neuronal 3, juvenile
C2675014	mullerian aplasia and hyperandrogenism
C1849661	pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
C1969623	neurofibromatosis, type 1-like syndrome
C2931675	ceroid lipofuscinosis, neuronal 4
C0872218	mitochondrial neurogastrointestinal encephalopathy syndrome
C1969624	tented eyebrows
C0406811	reticulate acropigmentation of kitamura
C1843273	tubulointerstitial nephritis and uveitis
C1865832	spondyloepimetaphyseal dysplasia, missouri type
C0393929	familial infantile myasthenia
C3149074	seizures, benign familial neonatal, 1
C1835910	familial anomalous origin of right pulmonary artery
C2931258	amaurosis congenita of leber, type 1
C1857413	cystinosis, ocular nonnephropathic
C1854023	spinal muscular atrophy, jerash type
C1970163	retinitis pigmentosa 37 (disorder)
C1706416	x-linked combined immunodeficiency
C1866504	photosensitive trichothiodystrophy
C1969656	myoclonic epilepsy, juvenile, susceptibility to, 4 (disorder)
C1854467	spastic paraplegia 13, autosomal dominant
C1854465	tuberous sclerosis 1 (disorder)
C0002986	fabry disease
C1866507	spondyloepimetaphyseal dysplasia with abnormal dentition
C1854466	temtamy preaxial brachydactyly syndrome
C0345382	gorlin chaudhry moss syndrome
C2677524	hypophosphatemic rickets and hyperparathyroidism
C1865865	usher syndrome, type ie (disorder)
C1864784	talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
C3149462	hyperalphalipoproteinemia 1
C1969653	mungan syndrome
C1969652	brachydactyly, type b2 (disorder)
C1843264	dystonia 13, torsion
C1855681	nephronophthisis, familial juvenile
C1835922	aminoacylase 1 deficiency
C2677512	deafness, unilateral, with delayed endolymphatic hydrops
C0342907	sitosterolemia
C2749936	spastic paraplegia 18, autosomal recessive (disorder)
C1956097	wolf-hirschhorn syndrome
C1861197	thoracolaryngopelvic dysplasia
C1836485	charcot-marie-tooth disease, axonal, type 2a2 (disorder)
C1969645	spastic ataxia 3, autosomal recessive
C1843257	cataract, congenital, with mental impairment and dentate gyrus atrophy
C1855675	arima syndrome
C1864791	short stature and facioauriculothoracic malformations
C2677515	otosclerosis 8 (disorder)
C1854470	mesomelic dysplasia, savarirayan type
C2677516	retinitis pigmentosa 41 (disorder)
C1849649	pseudotrisomy 13 syndrome
C1833296	frontotemporal dementia, chromosome 3-linked
C1843251	charcot-marie-tooth disease, type 2i
C1834340	necrotizing encephalomyelopathy, subacute, of leigh, adult
C1857473	craniosynostosis-mental retardation syndrome of lin and gettig
C1854449	neuropathy, hereditary motor and sensory, russe type
C1836472	nemaline myopathy 6
C0241908	benign familial hematuria
C1836474	spinocerebellar ataxia, autosomal recessive 7
C2675897	chromosome 1q21.1 deletion syndrome, 1.35-mb
C0346072	blue rubber bleb nevus syndrome
C0005859	bloom syndrome
C1970187	deafness, sensorineural, and male infertility
C0346073	tufted angioma
C1809471	familial benign hypercalcemia
C1328840	autoimmune lymphoproliferative syndrome
C0079588	ichthyosis, x-linked
C1845540	autism, x-linked, susceptibility to, 1 (finding)
C1865885	usher syndrome, type if
C0268390	muckle-wells syndrome
C1845543	mental retardation, x-linked, syndromic, hedera type
C2675891	chromosome 1q21.1 duplication syndrome
C0043116	hmn (hereditary motor neuropathy) proximal type i
C1855663	kaufman oculocerebrofacial syndrome
C0043119	werner syndrome
C1834336	nemaline myopathy 3
C1845539	autism, x-linked, susceptibility to, 2 (finding)
C1836460	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2
C0740302	5q-syndrome
C2752157	malposition of teeth with or without hypodontia/oligodontia
C1835980	parietal foramina 3
C2675463	chromosome 15q26-qter deletion syndrome
C1970173	acyl-coa dehydrogenase family, member 9, deficiency of
C1834821	metaphyseal dysplasia without hypotrichosis
C1844376	granulomatous disease, chronic, x-linked
C1619700	renal adysplasia
C0263506	perifolliculitis capitis abscedens
C1837518	spinocerebellar ataxia 25
C1865872	nephronophthisis 2
C1837122	myasthenic syndrome, congenital, fast-channel
C1842149	spondyloepiphyseal dysplasia, kimberley type
C0431399	familial aplasia of the vermis
C1854065	late-onset retinal degeneration (disorder)
C0004352	autistic disorder
C1855648	kenny-caffey syndrome, type 1
C2675875	chromosome 2p16.1-p15 deletion syndrome
C1857451	acth-independent macronodular adrenal hyperplasia
C1854061	cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
C2931213	usher syndrome, type 2c
C2674705	multicentric carpotarsal osteolysis syndrome
C0029411	osteoarthropathy, primary hypertrophic
C1845028	anemia, sideroblastic, and spinocerebellar ataxia
C1837501	microcephaly 5, primary, autosomal recessive
C1849678	peroxisomal acyl-coa oxidase deficiency
C1845526	mental retardation, x-linked 46
C0037773	spastic paraplegia, hereditary
C1842136	deafness, autosomal dominant 49 (disorder)
C2931618	gestational trophoblastic disease
C1843891	spinocerebellar ataxia 21
C1845517	hydroxyacyl-coa dehydrogenase, type 2, deficiency
C3150354	immunodeficiency, common variable, 2
C2676023	hypercarotenemia and vitamin a deficiency, autosomal dominant
C0029421	osteochondritis dissecans
C1834846	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
C1836448	nemaline myopathy 1
C1836447	nemaline myopathy 4
C1843896	arrhythmogenic right ventricular dysplasia, familial, 8
C1843292	skin fragility-woolly hair syndrome
C0398595	myeloperoxidase deficiency syndrome
C1837972	myopia 5 (disorder)
C2751055	choroidal dystrophy, central areolar 3
C1862299	basilar impression, primary
C1837974	corneal dystrophy, lattice type iiia
C1834304	amyotrophy, hereditary neuralgic
C1853354	peeling skin syndrome, acral type
C0282492	sneddon syndrome
C1836027	deafness, autosomal recessive 23
C1847800	waardenburg syndrome, type i (disorder)
C0042580	vesico-ureteral reflux
C0015625	fanconi anemia
C1846168	mental retardation, x-linked, syndromic 10
C2749484	neuroblastoma, susceptibility to
C2745959	spondyloepiphyseal dysplasia, congenita
C0015624	fanconi syndrome
C1853761	spinocerebellar ataxia, autosomal recessive 1
C1855217	metaphyseal chondrodysplasia, kaitila type
C2745953	spondylometaphyseal dysplasia with dentinogenesis imperfecta
C1843884	spinocerebellar ataxia 18
C1846171	lissencephaly, x-linked, 2
C1836439	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
C0032914	pre-eclampsia
C1854405	frontoocular syndrome
C2673635	combined saposin deficiency
C1855627	haim-munk syndrome
C2673630	hypothyroidism, congenital, nongoitrous, 5 (disorder)
C3149656	neuropathy, hereditary sensory and autonomic, type ia
C1850569	nemaline myopathy 2
C1859209	klippel feil syndrome recessive type
C1848137	epilepsy, female-restricted, with mental retardation (disorder)
C1866962	simosa cranio facial syndrome
C1836033	cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
C1846175	simpson-golabi-behmel syndrome, type 2 (disorder)
C0341306	microvillus inclusion disease
C1833736	osteogenesis imperfecta, levin type
C1855229	spondylometaphyseal dysplasia, sedaghatian type
C0917713	becker muscular dystrophy
C2673649	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
C1853755	autism, susceptibility to, 5
C0004779	basal cell nevus syndrome
C1845987	neutropenia, severe congenital, x-linked
C1847185	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
C3151421	cyanosis, transient neonatal
C1854416	macrocephaly/autism syndrome
C2673642	combined oxidative phosphorylation deficiency 5
C0917715	hajdu-cheney syndrome
C1846564	spastic paraplegia 7, autosomal recessive
C1837552	charcot-marie-tooth disease, axonal, type 2l (disorder)
C1848934	spondylocarpotarsal synostosis syndrome
C1848909	taurodontia absent teeth sparse hair
C1415882	ids gene
C2751608	pituitary hormone deficiency, combined, 1
C3159311	bornholm eye disease
C2930898	benign essential blepharospasm
C1866994	ulnar-mammary syndrome
C0410529	hypochondroplasia (disorder)
C3179239	osteopetrosis autosomal dominant type 2
C1860357	vulvovaginitis, allergic seminal
C0005129	bernard-soulier syndrome
C1863659	deafness, autosomal dominant 17
C1840235	solitary median maxillary central incisor
C0546264	congenital fiber type disproportion
C0028326	noonan syndrome
C1855605	kniest like dysplasia lethal
C1837541	spinocerebellar ataxia 20
C1855607	keutel syndrome
C0220658	pfeiffer syndrome
C1856738	fibular hypoplasia and complex brachydactyly
C1855606	kniest-like dysplasia with pursed lips and ectopia lentis
C0220659	acrodysostosis
C1848903	teeth noneruption of with maxillary hypoplasia and genu valgum
C1857496	craniometaphyseal dysplasia, autosomal recessive
C1850554	atelosteogenesis, type ii (disorder)
C1853345	generalized epilepsy with febrile seizures plus, type 4
C1860752	cardiomyopathy, familial hypertrophic, 7
C1832284	facial paresis, hereditary, congenital hcfp1
C1853736	congenital disorder of glycosylation, type iib
C0410538	pseudoachondroplasia
C1836010	spastic paraplegia, optic atrophy, and neuropathy
C3151446	nestor-guillermo progeria syndrome
C1843851	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
C0152109	juvenile spinal muscular atrophy
C1846588	spastic paralysis, infantile-onset ascending
C2675486	chromosome 6pter-p24 deletion syndrome
C0011195	dejerine-sottas disease (disorder)
C1856728	fuhrmann syndrome
C1833219	charcot-marie-tooth disease, axonal, type 2b (disorder)
C1837530	aicar transformylase/imp cyclohydrolase deficiency
C1845055	alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked
C1840646	hepatic adenomas, familial
C0206115	wagr syndrome
C2750893	epilepsy, idiopathic generalized, susceptibility to, 11
C1846582	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
C2750892	epilepsy, juvenile absence, susceptibility to, 1
C1847843	episodic ataxia, type 4
C1840219	indifference to pain, congenital, autosomal dominant
C1855903	hypertelorism and tetralogy of fallot
C1855904	naguib-richieri-costa syndrome
C1846128	ptosis, hereditary congenital 2
C1853396	primary lateral sclerosis juvenile
C1832274	charcot-marie-tooth disease, type 2d
C0022595	keratosis follicularis
C0221210	congenital malrotation of intestine
C3152055	d-2-hydroxyglutaric aciduria 1
C1861185	thrombocytopenia 2 (disorder)
C0024814	marinesco-sjogren syndrome
C2750509	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
C2673677	myopathy, early-onset, with fatal cardiomyopathy
C2674321	thrombophilia due to protein c deficiency, autosomal dominant
C1860339	waardenburg syndrome, type iia
C0013080	down syndrome
C1321489	torre-muir syndrome
C1833275	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
C1846529	cone-rod dystrophy 10
C1835905	epilepsy, nocturnal frontal lobe, type 4
C2677535	alopecia, neurologic defects, and endocrinopathy syndrome
C1865409	amyotrophic lateral sclerosis 4, juvenile
C0152164	cyclical vomiting syndrome (disorder)
C1861178	thrombocytopenia paris-trousseau type
C2673686	spondylometaphyseal dysplasia, east-african type
C0733682	familial hypophosphatemic bone disease
C3151071	complement component 3 deficiency, autosomal recessive
C1847839	episodic ataxia, type 3
C1861171	thrombophilia due to activated protein c resistance (disorder)
C1846145	mental retardation, x-linked, syndromic 11
C1847823	charcot-marie-tooth disease, axonal, type 2f
C1860707	tuberous sclerosis 2 (disorder)
C1859252	cerebrofaciothoracic dysplasia
C1846142	hoyeraal-hreidarsson syndrome
C1859148	chondrodysplasia, blomstrand type
C2931688	dystrophia myotonica 1
C2931689	dystrophia myotonica 2
C0856830	calcium pyrophosphate arthropathy
C1846148	sketetal dysplasia coarse facies mental retardation
C0086650	mps iii d
C0346010	multiple fibrofolliculomas
C0007570	celiac disease
C0086651	mucopolysaccharidosis, mps-iv-a
C0086652	mucopolysaccharidosis type ivb
C1861848	paragangliomas 4
C2677567	dystonia 16 (disorder)
C3151081	complement component 8 deficiency, type i
C1859133	rhizomelic chondrodysplasia punctata, type 1
C3151097	meier-gorlin syndrome 2
C1832244	cardiomyopathy, dilated, 1c (disorder)
C0010674	cystic fibrosis
C1843816	bothnia retinal dystrophy
C1856761	fibromatosis, gingival, with distinctive facies
C3150757	microphthalmia, isolated 6
C2749022	chromosome xp11.23-p11.22 duplication syndrome
C0086649	mps iii c
C0086647	mps iii a
C0086648	mps iii b
C1845095	deafness, x-linked 5 (disorder)
C1866552	paragangliomas 2 (disorder)
C1858991	leukoencephalopathy with vanishing white matter
C1845094	cataracts, ataxia, short stature, and mental retardation
C1861830	cataract, floriform
C1861835	wellesley carmen french syndrome
C2750514	factor xiii, a subunit, deficiency of
C1846545	autoimmune lymphoproliferative syndrome type 2b
C0796005	kapur toriello syndrome
C0796004	kabuki make-up syndrome
C0796003	juberg-marsidi syndrome
C1839040	leber optic atrophy and dystonia
C1420653	tcn2 gene
C1842422	synpolydactyly 2
C1847361	cree mental retardation syndrome
C0700635	strudwick syndrome
C1833693	otodental dysplasia
C0948368	kaufman-mckusick syndrome
C1720957	hyper-igm immunodeficiency syndrome, type 3
C1720958	hyper-igm immunodeficiency syndrome, type 5
C1720956	hyper-igm immunodeficiency syndrome, type 2
C1847759	muscular dystrophy, congenital, 1c
C0206042	fatal familial insomnia
C1847352	polymicrogyria, bilateral frontoparietal
C1864389	premature chromatid separation trait
C0795864	smith-magenis syndrome
C0039590	testicular neoplasms
C1855175	metaphyseal dysostosis, mental retardation, and conductive deafness
C1852759	papillorenal syndrome
C1720965	ectodermal dysplasia 3, anhidrotic
C1843807	basal ganglia disease, biotin-responsive
C0039585	androgen-insensitivity syndrome
C1842402	tropical calcific pancreatitis
C0796022	lujan fryns syndrome
C2748527	keratosis follicularis spinulosa decalvans, autosomal dominant (disorder)
C1849236	severe combined immunodeficiency, atypical
C2930820	incontinentia pigmenti, familial male-lethal type
C1863204	adult syndrome
C1838782	wolfram syndrome, mitochondrial form
C1863203	hypoglossia-hypodactylia
C1867983	porencephaly, familial
C1848199	x-linked lissencephaly
C1858172	deafness, autosomal dominant 20
C1857933	alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
C1856689	friedreich ataxia 1
C1832736	congenital disorder of glycosylation, type id
C1394891	intrinsic factor deficiency
C1857041	ectodermal dysplasia, ectrodactyly, and macular dystrophy
C1832322	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
C1846632	thyroid dyshormonogenesis 6
C1859194	griscelli syndrome, type 1
C2748515	spondyloepimetaphyseal dysplasia, pakistani type
C0796013	zimmerman laband syndrome
C1842413	immunodeficiency with hyper-igm, type 4
C0796012	krause-kivlin syndrome
C1848862	miller-mckusick-malvaux-syndrome (3m syndrome)
C1839454	properdin deficiency, x-linked
C0795889	allan-herndon-dudley syndrome (ahds)
C2749509	myopia 18, autosomal recessive
C1847114	spinocerebellar ataxia, autosomal recessive 5
C1853298	hamartoma, precalcaneal congenital fibrolipomatous
C1857038	ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality
C1857941	brooke-spiegler syndrome
C0403557	glomerulopathy with giant fibrillar deposits
C1857034	ehlers-danlos syndrome, cardiac valvular form
C0796019	spastic paraplegia 23 (disorder)
C1855928	hyperlexia
C1858562	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
C0403553	renal dysplasia and retinal aplasia (disorder)
C1832334	charcot-marie-tooth disease, type 4d
C1849250	seizures, benign familial neonatal, autosomal recessive
C1855923	hyperphosphatasia with mental retardation
C0403554	renal tubular acidosis with progressive nerve deafness
C2750063	leber congenital amaurosis 14
C2750061	hypokalemic periodic paralysis, type 2
C1836994	marfanoid habitus with situs inversus
C1801950	opitz-g syndrome, type 2
C2750068	roifman-chitayat syndrome
C1864356	acromesomelic dysplasia, maroteaux type
C2750457	waardenburg syndrome, type 4b
C1853710	hereditary motor and sensory neuropathy, type iic (disorder)
C2748545	question mark ears, isolated
C1866495	bartter syndrome, antenatal type 1
C1858106	spastic paraplegia 12, autosomal dominant (disorder)
C0403549	enamel-renal syndrome
C1863649	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
C1858108	microcephaly 3, primary, autosomal recessive
C0342474	lipoid congenital adrenal hyperplasia
C1836584	spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type
C1859198	charcot-marie-tooth disease, type 4a (disorder)
C0410180	eichsfeld type congenital muscular dystrophy
C1857069	schopf-schulz-passarge syndrome (disorder)
C0085859	polyglandular type i autoimmune syndrome
C2750452	waardenburg syndrome, type 4c
C0026987	myelofibrosis
C2750069	lipodystrophy, congenital generalized, type 4
C1844887	catel manzke syndrome
C1858517	spinal muscular atrophy with respiratory distress 1
C1801959	histiocytic medullary reticulosis (disorder)
C1858114	huntington disease-like 3 (disorder)
C0238111	lennox-gastaut syndrome
C0024776	maple syrup urine disease
C1968893	preauricular tag, isolated, autosomal dominant, 1
C1858118	muscular dystrophy, congenital, 1b
C3151513	mitochondrial dna depletion syndrome 3 (hepatocerebral type)
C2745997	orofaciodigital syndrome vi
C1847399	faciomandibular myoclonus, nocturnal
C2748536	leukocyte adhesion deficiency, type iii
C0410190	autosomal dominant emery-dreifuss muscular dystrophy (disorder)
C0940054	esophageal band
C1853723	myopathy, distal 2
C0085860	autoimmune syndrome type ii, polyglandular
C1832702	brachydactyly, type a2
C1858501	spinocerebellar ataxia 12
C0023195	lecithin acyltransferase deficiency
C0342870	bifunctional peroxisomal enzyme deficiency
C0338451	frontotemporal dementia
C3151959	renal tubulopathy, diabetes mellitus, and cerebellar ataxia
C1857093	dystonia 2, torsion, autosomal recessive (disorder)
C1785148	rapp-hodgkin syndrome
C0149931	migraine disorders
C1847387	cardioneuromyopathy with hyaline masses and nemaline rods
C2748568	immune dysfunction with t-cell inactivation due to calcium entry defect 1
C1857089	dystonia with ringbinden
C1863621	mental health wellness 1
C0432122	interfrontal craniofaciosynostosis
C0338488	alternating hemiplegia of childhood
C3151519	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3
C1839885	leigh syndrome, x-linked
C1839884	leiomyomatosis, esophageal and vulval, with nephropathy
C2751536	cerebral amyloid angiopathy, app-related
C1844865	charcot-marie-tooth disease, x-linked recessive, 3 (disorder)
C1858538	blepharophimosis with facial and genital anomalies and mental retardation
C0266526	norrie disease
C1857977	microhydranencephaly
C2751535	bleeding disorder, platelet-type, 12
C1835437	platyspondylic lethal skeletal dysplasia, torrance type
C2750076	miyoshi muscular dystrophy 3
C1863236	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
C1291512	deficiency of beta-ureidopropionase
C0342895	fish-eye disease
C2750075	chondrodysplasia, megarbane-dagher-melki type
C1833308	neuronopathy, distal hereditary motor, type v
C1863616	acromelic frontonasal dysostosis
C1855114	methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
C2748557	immune dysfunction with t-cell inactivation due to calcium entry defect 2
C1836050	filaminopathy, autosomal dominant
C0410173	severe autosomal recessive muscular dystrophy of childhood - north african type (disorder)
C1839874	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
C1836573	griscelli syndrome, type 3
C2750481	factor xiii, b subunit, deficiency of
C1848144	woods black norbury syndrome
C0410179	scleroatonic muscular dystrophy
C1844873	charcot-marie-tooth disease, x-linked recessive, 2 (disorder)
C0410174	fukuyama type congenital muscular dystrophy
C0024796	marfan syndrome
C1836544	schindler disease, type 1
C1843315	neuronopathy, distal hereditary motor, type viib
C0268344	ehlers-danlos syndrome 6b
C0268345	ehlers-danlos syndrome, arthrochalasia type
C2751073	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
C0268347	ehlers-danlos syndrome, type 8
C0029408	degenerative polyarthritis
C1449843	pseudohypoaldosteronism, type i, autosomal recessive
C1845450	cubitus valgus with mental retardation and unusual facies
C0406775	symmetrical dyschromatosis of extremities
C1842062	muscular dystrophy, limb-girdle, type 1f
C0268341	ehlers-danlos syndrome type 5
C0268342	ehlers-danlos syndrome type 6
C0406778	dermatopathia pigmentosa reticularis
C0085132	mucopolysaccharidosis vii
C1970723	hirschsprung disease, susceptibility to, 5
C0029401	osteitis deformans
C0270853	myoclonic epilepsy, juvenile
C0796089	lissencephaly syndrome, norman-roberts type
C0270855	early myoclonic encephalopathy
C0270850	idiopathic generalized epilepsy
C0796086	neuhauser syndrome
C0796085	nance-horan syndrome
C0796080	mental retardation, buenos aires type
C1867924	postaxial oligodactyly, tetramelic
C0796081	growth mental deficiency syndrome of myhre
C1843323	van buchem disease type 2
C0268350	cutis laxa, autosomal dominant
C1844853	chondrodysplasia punctata, brachytelephalangic
C1838329	aplasia cutis congenita with epibulbar dermoids
C0268355	cutis laxa with osteodystrophy
C0268353	cutis laxa, x-linked
C2751067	parkinsonism-dystonia, infantile
C0268354	de barsy syndrome
C0268351	cutis laxa, autosomal recessive
C1837154	drug metabolism, poor, cyp2d6-related
C1850168	bruck syndrome 1
C0271623	hypogonadotropic hypogonadism
C1864723	pyridoxamine 5-prime-phosphate oxidase deficiency
C1970712	multiple endocrine neoplasia, type iv
C0079661	klein's syndrome
C1835896	spastic paraplegia 30, autosomal recessive (disorder)
C1868685	multiple sclerosis, susceptibility to
C1868684	ear, patella, short stature syndrome
C0796074	mohr-tranebjaerg syndrome
C1868682	paroxysmal kinesigenic choreoathetosis
C1868681	dystonia 12
C0796070	microphthalmia, syndromic 7
C2751092	neuropathy, hereditary sensory and autonomic, type iib
C1836522	kanzaki disease
C0268360	osteogenesis imperfecta, recessive perinatal lethal
C0268362	osteogenesis imperfecta type iii (disorder)
C0268363	osteogenesis imperfecta type iv (disorder)
C1850155	torg-winchester syndrome
C0038868	progressive supranuclear palsy
C1868675	parkinson disease 2, autosomal recessive juvenile
C1868678	thanatophoric dysplasia, type i (disorder)
C1838701	deafness, autosomal recessive 2
C1868679	griscelli syndrome, type 2
C1855995	l-2-hydroxyglutaric aciduria
C1835888	diarrhea 4, malabsorptive, congenital
C1842485	zinc in breast milk, reduced
C1867904	long qt syndrome 5
C1868672	nephrotic syndrome, steroid-resistant, autosomal recessive
C0001193	apert syndrome
C1868674	lymphoproliferative syndrome, x-linked, 1
C1845446	corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
C0406740	kohlschutter tonz syndrome
C1412573	asah1 gene
C1842058	craniosynostosis, calcification of basal ganglia, and facial dysmorphism
C0752347	lewy body disease
C0268374	adult junctional epidermolysis bullosa (disorder)
C1412999	c4a gene
C1835485	leiomyoma, multiple cutaneous
C1850143	osteolysis syndrome recessive
C0151779	cutaneous melanoma
C0079683	herlitz disease
C1864706	myopathy, distal, 3
C0796093	odontoonychodermal dysplasia
C0796092	oculocerebrocutaneous syndrome
C0796095	opitz trigonocephaly syndrome
C2752147	xeroderma pigmentosum, complementation group c
C0796094	blepharophimosis syndrome ohdo type
C1858593	limb-girdle muscular dystrophy, type 2e
C0268301	reifenstein syndrome
C0018523	hallervorden-spatz syndrome
C1413206	cd19 gene
C0018522	hallermann's syndrome
C1836507	febrile convulsions, familial, 5
C1842870	chromosome 1p36 deletion syndrome
C1843355	ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
C0795830	chromosome 9p deletion syndrome
C0162832	apc gene
C1970506	ciliary dyskinesia, primary, 6
C0011615	dermatitis, atopic
C1824927	dfny1 gene
C0795833	kleefstra syndrome
C1842465	lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
C1842464	nablus mask-like facial syndrome
C2751987	cutis laxa, autosomal recessive, type iib
C0268314	cholestasis-edema syndrome, norwegian type
C0017551	gilbert disease (disorder)
C0268312	progressive intrahepatic cholestasis (disorder)
C0007965	chediak-higashi syndrome
C0268311	crigler-najjar syndrome, type ii (disorder)
C1419764	rs1 gene
C1852372	mitochondrial complex iii deficiency (disorder)
C1843366	niemann-pick disease, type c2
C0432194	schneckenbecken dysplasia
C1836517	senior-loken syndrome 5
C1836518	febrile convulsions, familial, 6
C0343057	keratosis pilaris decalvans
C2751584	neurodegeneration due to cerebral folate transport deficiency
C0795822	recombinant chromosome 8 syndrome
C1280798	von willebrand disease, platelet type
C0020074	hsan type iv
C0020075	hereditary sensory autonomic neuropathy, type 5
C1857512	temtamy syndrome
C1850126	osteopetrosis, mild autosomal recessive form
C1850127	osteopetrosis, autosomal recessive 1
C0398626	heparin cofactor ii deficiency (disorder)
C1970757	tooth agenesis, selective, x-linked, 1
C0796037	martsolf syndrome
C0085106	familial benign pemphigus
C0268318	cholestasis of pregnancy
C0796033	marden-walker syndrome
C1567743	alport syndrome, autosomal dominant
C1567744	alport syndrome, autosomal recessive
C1567742	alport syndrome, x-linked
C1843330	osteopetrosis, autosomal dominant 1
C1970119	cardiac arrhythmia, ankyrin-b-related
C1842082	vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency
C1510460	orofaciodigital syndrome i
C1842852	epilepsy, myoclonic, benign adult familial, type 2
C0343068	familial cold urticaria
C2677167	lymphedema, cardiac septal defects, and characteristic facies
C0019202	hepatolenticular degeneration
C1856255	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
C1856251	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
C2931161	immunoglobulin a deficiency 1
C1283620	sucrase-isomaltase deficiency, congenital
C0268328	porphobilinogen synthase deficiency
C0796068	oculodigitoesophagoduodenal syndrome
C1260386	glucocorticoid-remediable aldosteronism
C1842090	platelet glycoprotein iv deficiency
C1865818	dystonia 7, torsion (disorder)
C1854108	cerebrooculonasal syndrome
C0018553	hamartoma syndrome, multiple
C1850100	parkinson disease 15, autosomal recessive (disorder)
C1850103	pachyonychia congenita recessive
C1854380	nemaline myopathy 5
C1839022	striatonigral degeneration, infantile, mitochondrial
C0398641	epstein syndrome (disorder)
C0268336	ehlers-danlos syndrome type 2
C0268335	ehlers-danlos syndrome type 1
C1839028	mitochondrial myopathy with diabetes
C0023264	leigh disease
C1851649	endometriosis, susceptibility to, 1
C0795841	jacobsen distal 11q deletion syndrome
C1536500	deficiency of acetyl-coa acetyltransferase
C0267663	congenital secretory diarrhea, sodium type (disorder)
C0267662	congenital chloride diarrhea
C0023138	laurence-moon syndrome
C0268337	ehlers-danlos syndrome, type 3 (disorder)
C0268338	ehlers-danlos syndrome, type iv
C1850106	raine syndrome
C1856245	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii