Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
All (HP:0000001)

Parent Node:
Clinical course (HP:0031797)

..Starting node
..Mortality/Aging (HP:0040006)

Term ID:

40006

Name:

Mortality/Aging

Synonym:

Definition:

Comments:

Reference:

HP:0040006

Genes and Diseases:

Child Nodes:

........

Age of death (HP:0011420)

................... HP:0001522 Death in infancy
................... HP:0001699 Sudden death
................... HP:0003811 Neonatal death
................... HP:0003819 Death in childhood
................... HP:0003826 Stillbirth
................... HP:0011421 Death in adolescence
................... HP:0100613 Death in early adulthood

Sister Nodes:

Onset (HP:0003674)

Pace of progression (HP:0003679)

Temporal pattern (HP:0011008)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040006	HP:0040006	Mortality/Aging	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0040006	HP:0040006	Mortality/Aging	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0040006	HP:0040006	Mortality/Aging	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0040006	HP:0040006	Mortality/Aging	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0040006	HP:0040006	Mortality/Aging	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0040006	HP:0040006	Mortality/Aging	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0040006	HP:0040006	Mortality/Aging	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0040006	HP:0040006	Mortality/Aging	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0040006	HP:0040006	Mortality/Aging	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0040006	HP:0040006	Mortality/Aging	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0040006	HP:0040006	Mortality/Aging	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0040006	HP:0040006	Mortality/Aging	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0040006	HP:0040006	Mortality/Aging	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0040006	HP:0040006	Mortality/Aging	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0040006	HP:0040006	Mortality/Aging	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0040006	HP:0040006	Mortality/Aging	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0040006	HP:0040006	Mortality/Aging	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0040006	HP:0040006	Mortality/Aging	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0040006	HP:0040006	Mortality/Aging	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0040006	HP:0040006	Mortality/Aging	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0040006	HP:0040006	Mortality/Aging	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0040006	HP:0040006	Mortality/Aging	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis		49
HP:0040006	HP:0040006	Mortality/Aging	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0040006	HP:0040006	Mortality/Aging	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type		74
HP:0040006	HP:0040006	Mortality/Aging	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0040006	HP:0040006	Mortality/Aging	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0040006	HP:0040006	Mortality/Aging	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0040006	HP:0040006	Mortality/Aging	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0040006	HP:0040006	Mortality/Aging	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0040006	HP:0040006	Mortality/Aging	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0040006	HP:0040006	Mortality/Aging	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0040006	HP:0040006	Mortality/Aging	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0040006	HP:0040006	Mortality/Aging	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0040006	HP:0040006	Mortality/Aging	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0040006	HP:0040006	Mortality/Aging	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0040006	HP:0040006	Mortality/Aging	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0040006	HP:0040006	Mortality/Aging	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040006	HP:0040006	Mortality/Aging	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0040006	HP:0040006	Mortality/Aging	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0040006	HP:0040006	Mortality/Aging	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0040006	HP:0040006	Mortality/Aging	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0040006	HP:0040006	Mortality/Aging	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0040006	HP:0040006	Mortality/Aging	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0040006	HP:0040006	Mortality/Aging	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0040006	HP:0040006	Mortality/Aging	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0040006	HP:0040006	Mortality/Aging	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0040006	HP:0040006	Mortality/Aging	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0040006	HP:0040006	Mortality/Aging	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0040006	HP:0040006	Mortality/Aging	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0040006	HP:0040006	Mortality/Aging	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0040006	HP:0040006	Mortality/Aging	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0040006	HP:0040006	Mortality/Aging	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0040006	HP:0040006	Mortality/Aging	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040006	HP:0040006	Mortality/Aging	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0040006	HP:0040006	Mortality/Aging	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0040006	HP:0040006	Mortality/Aging	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0040006	HP:0040006	Mortality/Aging	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0040006	HP:0040006	Mortality/Aging	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12		16
HP:0040006	HP:0040006	Mortality/Aging	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0040006	HP:0040006	Mortality/Aging	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0040006	HP:0040006	Mortality/Aging	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0040006	HP:0040006	Mortality/Aging	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0040006	HP:0040006	Mortality/Aging	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0040006	HP:0040006	Mortality/Aging	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040006	HP:0040006	Mortality/Aging	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0040006	HP:0040006	Mortality/Aging	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0040006	HP:0040006	Mortality/Aging	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040006	HP:0040006	Mortality/Aging	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0040006	HP:0040006	Mortality/Aging	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0040006	HP:0040006	Mortality/Aging	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0040006	HP:0040006	Mortality/Aging	0	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis		3
HP:0040006	HP:0040006	Mortality/Aging	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0040006	HP:0040006	Mortality/Aging	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0040006	HP:0040006	Mortality/Aging	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0040006	HP:0040006	Mortality/Aging	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0040006	HP:0040006	Mortality/Aging	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0040006	Mortality/Aging	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0040006	HP:0040006	Mortality/Aging	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0040006	HP:0040006	Mortality/Aging	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0040006	HP:0040006	Mortality/Aging	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0040006	HP:0040006	Mortality/Aging	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0040006	HP:0040006	Mortality/Aging	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0040006	HP:0040006	Mortality/Aging	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0040006	HP:0040006	Mortality/Aging	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040006	HP:0040006	Mortality/Aging	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0040006	HP:0040006	Mortality/Aging	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0040006	HP:0040006	Mortality/Aging	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0040006	HP:0040006	Mortality/Aging	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0040006	HP:0040006	Mortality/Aging	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0040006	HP:0040006	Mortality/Aging	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0040006	HP:0040006	Mortality/Aging	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0040006	HP:0040006	Mortality/Aging	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0040006	HP:0040006	Mortality/Aging	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0040006	HP:0040006	Mortality/Aging	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0040006	HP:0040006	Mortality/Aging	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0040006	HP:0040006	Mortality/Aging	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0040006	HP:0040006	Mortality/Aging	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0040006	HP:0040006	Mortality/Aging	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0040006	HP:0040006	Mortality/Aging	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0040006	HP:0040006	Mortality/Aging	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0040006	HP:0040006	Mortality/Aging	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0040006	HP:0040006	Mortality/Aging	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0040006	HP:0040006	Mortality/Aging	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0040006	HP:0040006	Mortality/Aging	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0040006	HP:0040006	Mortality/Aging	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0040006	HP:0040006	Mortality/Aging	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0040006	HP:0040006	Mortality/Aging	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0040006	HP:0040006	Mortality/Aging	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0040006	HP:0040006	Mortality/Aging	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0040006	HP:0040006	Mortality/Aging	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0040006	HP:0040006	Mortality/Aging	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0040006	HP:0040006	Mortality/Aging	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0040006	HP:0040006	Mortality/Aging	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0040006	HP:0040006	Mortality/Aging	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0040006	Mortality/Aging	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia		47
HP:0040006	HP:0040006	Mortality/Aging	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0040006	Mortality/Aging	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia		62
HP:0040006	HP:0040006	Mortality/Aging	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0040006	HP:0040006	Mortality/Aging	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0040006	HP:0040006	Mortality/Aging	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0040006	HP:0040006	Mortality/Aging	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0040006	Mortality/Aging	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia		34
HP:0040006	HP:0040006	Mortality/Aging	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0040006	HP:0040006	Mortality/Aging	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0040006	HP:0040006	Mortality/Aging	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0040006	HP:0040006	Mortality/Aging	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0040006	HP:0040006	Mortality/Aging	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0040006	HP:0040006	Mortality/Aging	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0040006	HP:0040006	Mortality/Aging	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0040006	HP:0040006	Mortality/Aging	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0040006	HP:0040006	Mortality/Aging	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0040006	HP:0040006	Mortality/Aging	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0040006	HP:0040006	Mortality/Aging	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0040006	HP:0040006	Mortality/Aging	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040006	HP:0040006	Mortality/Aging	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040006	HP:0040006	Mortality/Aging	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0040006	HP:0040006	Mortality/Aging	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0040006	HP:0040006	Mortality/Aging	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0040006	HP:0040006	Mortality/Aging	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0040006	HP:0040006	Mortality/Aging	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0040006	HP:0040006	Mortality/Aging	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0040006	HP:0040006	Mortality/Aging	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0040006	HP:0040006	Mortality/Aging	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0040006	HP:0040006	Mortality/Aging	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0040006	HP:0040006	Mortality/Aging	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1		45
HP:0040006	HP:0040006	Mortality/Aging	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0040006	HP:0040006	Mortality/Aging	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0040006	HP:0040006	Mortality/Aging	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0040006	HP:0040006	Mortality/Aging	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0040006	HP:0040006	Mortality/Aging	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0040006	HP:0040006	Mortality/Aging	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0040006	HP:0040006	Mortality/Aging	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0040006	HP:0040006	Mortality/Aging	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0040006	HP:0040006	Mortality/Aging	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0040006	HP:0040006	Mortality/Aging	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0040006	HP:0040006	Mortality/Aging	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0040006	HP:0040006	Mortality/Aging	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0040006	HP:0040006	Mortality/Aging	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0040006	HP:0040006	Mortality/Aging	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0040006	HP:0040006	Mortality/Aging	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0040006	HP:0040006	Mortality/Aging	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0040006	HP:0040006	Mortality/Aging	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0040006	HP:0040006	Mortality/Aging	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0040006	HP:0040006	Mortality/Aging	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0040006	HP:0040006	Mortality/Aging	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0040006	HP:0040006	Mortality/Aging	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0040006	Mortality/Aging	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0040006	HP:0040006	Mortality/Aging	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0040006	HP:0040006	Mortality/Aging	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0040006	HP:0040006	Mortality/Aging	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0040006	HP:0040006	Mortality/Aging	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0040006	HP:0040006	Mortality/Aging	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0040006	HP:0040006	Mortality/Aging	0	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0040006	HP:0040006	Mortality/Aging	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040006	HP:0040006	Mortality/Aging	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0040006	HP:0040006	Mortality/Aging	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0040006	HP:0040006	Mortality/Aging	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0040006	HP:0040006	Mortality/Aging	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0040006	HP:0040006	Mortality/Aging	0	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0040006	HP:0040006	Mortality/Aging	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0040006	HP:0040006	Mortality/Aging	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0040006	HP:0040006	Mortality/Aging	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0040006	HP:0040006	Mortality/Aging	0	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0040006	HP:0040006	Mortality/Aging	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0040006	HP:0040006	Mortality/Aging	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0040006	HP:0040006	Mortality/Aging	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0040006	HP:0040006	Mortality/Aging	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0040006	HP:0040006	Mortality/Aging	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0040006	HP:0040006	Mortality/Aging	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0040006	HP:0040006	Mortality/Aging	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0040006	HP:0040006	Mortality/Aging	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0040006	HP:0040006	Mortality/Aging	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0040006	HP:0040006	Mortality/Aging	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation		645
HP:0040006	HP:0040006	Mortality/Aging	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0040006	HP:0040006	Mortality/Aging	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0040006	HP:0040006	Mortality/Aging	0	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0040006	HP:0040006	Mortality/Aging	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0040006	HP:0040006	Mortality/Aging	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0040006	HP:0040006	Mortality/Aging	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0040006	HP:0040006	Mortality/Aging	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0040006	HP:0040006	Mortality/Aging	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0040006	HP:0040006	Mortality/Aging	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0040006	Mortality/Aging	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0040006	HP:0040006	Mortality/Aging	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0040006	HP:0040006	Mortality/Aging	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0040006	HP:0040006	Mortality/Aging	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0040006	HP:0040006	Mortality/Aging	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0040006	HP:0040006	Mortality/Aging	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0040006	HP:0040006	Mortality/Aging	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0040006	HP:0040006	Mortality/Aging	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0040006	HP:0040006	Mortality/Aging	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0040006	HP:0040006	Mortality/Aging	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0040006	HP:0040006	Mortality/Aging	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0040006	HP:0040006	Mortality/Aging	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0040006	HP:0040006	Mortality/Aging	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0040006	HP:0040006	Mortality/Aging	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0040006	HP:0040006	Mortality/Aging	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0040006	HP:0040006	Mortality/Aging	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0040006	HP:0040006	Mortality/Aging	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0040006	HP:0040006	Mortality/Aging	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0040006	HP:0040006	Mortality/Aging	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0040006	HP:0040006	Mortality/Aging	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0040006	HP:0040006	Mortality/Aging	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0040006	HP:0040006	Mortality/Aging	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0040006	HP:0040006	Mortality/Aging	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0040006	HP:0040006	Mortality/Aging	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0040006	HP:0040006	Mortality/Aging	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0040006	HP:0040006	Mortality/Aging	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0040006	HP:0040006	Mortality/Aging	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0040006	HP:0040006	Mortality/Aging	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0040006	HP:0040006	Mortality/Aging	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0040006	HP:0040006	Mortality/Aging	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0040006	HP:0040006	Mortality/Aging	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0040006	HP:0040006	Mortality/Aging	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0040006	HP:0040006	Mortality/Aging	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0040006	HP:0040006	Mortality/Aging	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13		19
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30		3
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040006	HP:0040006	Mortality/Aging	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0040006	HP:0040006	Mortality/Aging	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0040006	HP:0040006	Mortality/Aging	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0040006	HP:0040006	Mortality/Aging	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0040006	HP:0040006	Mortality/Aging	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0040006	HP:0040006	Mortality/Aging	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040006	HP:0040006	Mortality/Aging	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0040006	HP:0040006	Mortality/Aging	0	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0040006	HP:0040006	Mortality/Aging	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0040006	HP:0040006	Mortality/Aging	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0040006	HP:0040006	Mortality/Aging	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0040006	HP:0040006	Mortality/Aging	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0040006	HP:0040006	Mortality/Aging	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0040006	HP:0040006	Mortality/Aging	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0040006	HP:0040006	Mortality/Aging	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0040006	HP:0040006	Mortality/Aging	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0040006	HP:0040006	Mortality/Aging	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0040006	HP:0040006	Mortality/Aging	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0040006	HP:0040006	Mortality/Aging	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0040006	HP:0040006	Mortality/Aging	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0040006	HP:0040006	Mortality/Aging	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0040006	HP:0040006	Mortality/Aging	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0040006	HP:0040006	Mortality/Aging	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0040006	Mortality/Aging	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0040006	HP:0040006	Mortality/Aging	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0040006	HP:0040006	Mortality/Aging	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0040006	HP:0040006	Mortality/Aging	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0040006	HP:0040006	Mortality/Aging	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0040006	HP:0040006	Mortality/Aging	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0040006	HP:0040006	Mortality/Aging	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0040006	HP:0040006	Mortality/Aging	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0040006	HP:0040006	Mortality/Aging	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0040006	HP:0040006	Mortality/Aging	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0040006	HP:0040006	Mortality/Aging	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0040006	HP:0040006	Mortality/Aging	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0040006	HP:0040006	Mortality/Aging	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0040006	HP:0040006	Mortality/Aging	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0040006	HP:0040006	Mortality/Aging	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0040006	HP:0040006	Mortality/Aging	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0040006	HP:0040006	Mortality/Aging	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0040006	HP:0040006	Mortality/Aging	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0040006	HP:0040006	Mortality/Aging	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)		98
HP:0040006	HP:0040006	Mortality/Aging	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0040006	HP:0040006	Mortality/Aging	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0040006	HP:0040006	Mortality/Aging	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0040006	HP:0040006	Mortality/Aging	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0040006	HP:0040006	Mortality/Aging	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0040006	HP:0040006	Mortality/Aging	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040006	HP:0040006	Mortality/Aging	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0040006	HP:0040006	Mortality/Aging	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3		1
HP:0040006	HP:0040006	Mortality/Aging	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0040006	HP:0040006	Mortality/Aging	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0040006	HP:0040006	Mortality/Aging	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0040006	HP:0040006	Mortality/Aging	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0040006	HP:0040006	Mortality/Aging	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0040006	HP:0040006	Mortality/Aging	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0040006	HP:0040006	Mortality/Aging	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0040006	HP:0040006	Mortality/Aging	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0040006	HP:0040006	Mortality/Aging	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0040006	HP:0040006	Mortality/Aging	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0040006	HP:0040006	Mortality/Aging	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0040006	HP:0040006	Mortality/Aging	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0040006	HP:0040006	Mortality/Aging	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0040006	HP:0040006	Mortality/Aging	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0040006	HP:0040006	Mortality/Aging	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0040006	HP:0040006	Mortality/Aging	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0040006	HP:0040006	Mortality/Aging	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0040006	HP:0040006	Mortality/Aging	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0040006	HP:0040006	Mortality/Aging	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0040006	HP:0040006	Mortality/Aging	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0040006	HP:0040006	Mortality/Aging	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0040006	HP:0040006	Mortality/Aging	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0040006	HP:0040006	Mortality/Aging	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0040006	HP:0040006	Mortality/Aging	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency		81
HP:0040006	HP:0040006	Mortality/Aging	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency		81
HP:0040006	HP:0040006	Mortality/Aging	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0040006	HP:0040006	Mortality/Aging	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0040006	HP:0040006	Mortality/Aging	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0040006	HP:0040006	Mortality/Aging	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0040006	HP:0040006	Mortality/Aging	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0040006	HP:0040006	Mortality/Aging	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0040006	HP:0040006	Mortality/Aging	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040006	HP:0040006	Mortality/Aging	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0040006	HP:0040006	Mortality/Aging	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0040006	Mortality/Aging	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0040006	HP:0040006	Mortality/Aging	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0040006	HP:0040006	Mortality/Aging	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0040006	HP:0040006	Mortality/Aging	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0040006	HP:0040006	Mortality/Aging	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0040006	HP:0040006	Mortality/Aging	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0040006	HP:0040006	Mortality/Aging	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0040006	HP:0040006	Mortality/Aging	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0040006	HP:0040006	Mortality/Aging	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0040006	HP:0040006	Mortality/Aging	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0040006	HP:0040006	Mortality/Aging	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0040006	HP:0040006	Mortality/Aging	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0040006	HP:0040006	Mortality/Aging	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040006	HP:0040006	Mortality/Aging	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0040006	HP:0040006	Mortality/Aging	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0040006	HP:0040006	Mortality/Aging	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0040006	HP:0040006	Mortality/Aging	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0040006	HP:0040006	Mortality/Aging	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0040006	HP:0040006	Mortality/Aging	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0040006	HP:0040006	Mortality/Aging	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0040006	HP:0040006	Mortality/Aging	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0040006	HP:0040006	Mortality/Aging	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0040006	HP:0040006	Mortality/Aging	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0040006	HP:0040006	Mortality/Aging	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0040006	HP:0040006	Mortality/Aging	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0040006	HP:0040006	Mortality/Aging	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0040006	HP:0040006	Mortality/Aging	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0040006	HP:0040006	Mortality/Aging	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0040006	HP:0040006	Mortality/Aging	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67		11
HP:0040006	HP:0040006	Mortality/Aging	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0040006	HP:0040006	Mortality/Aging	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0040006	HP:0040006	Mortality/Aging	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3		166
HP:0040006	HP:0040006	Mortality/Aging	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0040006	HP:0040006	Mortality/Aging	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0040006	HP:0040006	Mortality/Aging	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0040006	HP:0040006	Mortality/Aging	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0040006	HP:0040006	Mortality/Aging	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0040006	HP:0040006	Mortality/Aging	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0040006	HP:0040006	Mortality/Aging	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0040006	HP:0040006	Mortality/Aging	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0040006	HP:0040006	Mortality/Aging	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0040006	HP:0040006	Mortality/Aging	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0040006	HP:0040006	Mortality/Aging	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0040006	HP:0040006	Mortality/Aging	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0040006	HP:0040006	Mortality/Aging	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0040006	HP:0040006	Mortality/Aging	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0040006	HP:0040006	Mortality/Aging	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040006	HP:0040006	Mortality/Aging	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0040006	HP:0040006	Mortality/Aging	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0040006	HP:0040006	Mortality/Aging	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040006	HP:0040006	Mortality/Aging	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0040006	HP:0040006	Mortality/Aging	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0040006	HP:0040006	Mortality/Aging	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0040006	HP:0040006	Mortality/Aging	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0040006	HP:0040006	Mortality/Aging	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0040006	HP:0040006	Mortality/Aging	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0040006	HP:0040006	Mortality/Aging	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0040006	HP:0040006	Mortality/Aging	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0040006	HP:0040006	Mortality/Aging	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0040006	HP:0040006	Mortality/Aging	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0040006	HP:0040006	Mortality/Aging	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0040006	HP:0040006	Mortality/Aging	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0040006	HP:0040006	Mortality/Aging	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0040006	HP:0040006	Mortality/Aging	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0040006	HP:0040006	Mortality/Aging	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0040006	HP:0040006	Mortality/Aging	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0040006	HP:0040006	Mortality/Aging	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0040006	HP:0040006	Mortality/Aging	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:0040006	HP:0040006	Mortality/Aging	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0040006	HP:0040006	Mortality/Aging	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040006	HP:0040006	Mortality/Aging	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0040006	Mortality/Aging	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0040006	Mortality/Aging	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0040006	HP:0040006	Mortality/Aging	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0040006	HP:0040006	Mortality/Aging	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0040006	HP:0040006	Mortality/Aging	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0040006	HP:0040006	Mortality/Aging	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0040006	HP:0040006	Mortality/Aging	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0040006	HP:0040006	Mortality/Aging	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0040006	HP:0040006	Mortality/Aging	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0040006	HP:0040006	Mortality/Aging	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0040006	HP:0040006	Mortality/Aging	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0040006	HP:0040006	Mortality/Aging	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0040006	HP:0040006	Mortality/Aging	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0040006	HP:0040006	Mortality/Aging	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0040006	HP:0040006	Mortality/Aging	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0040006	HP:0040006	Mortality/Aging	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0040006	HP:0040006	Mortality/Aging	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0040006	HP:0040006	Mortality/Aging	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0040006	HP:0040006	Mortality/Aging	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0040006	HP:0040006	Mortality/Aging	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0040006	HP:0040006	Mortality/Aging	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0040006	HP:0040006	Mortality/Aging	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0040006	Mortality/Aging	0	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0040006	HP:0040006	Mortality/Aging	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0040006	HP:0040006	Mortality/Aging	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0040006	HP:0040006	Mortality/Aging	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0040006	HP:0040006	Mortality/Aging	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0040006	HP:0011420	Age of death	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0040006	HP:0011420	Age of death	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0040006	HP:0011420	Age of death	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0040006	HP:0011420	Age of death	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0040006	HP:0011420	Age of death	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0040006	HP:0011420	Age of death	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0040006	HP:0011420	Age of death	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0040006	HP:0011420	Age of death	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0040006	HP:0011420	Age of death	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0040006	HP:0011420	Age of death	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0040006	HP:0011420	Age of death	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0040006	HP:0011420	Age of death	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0040006	HP:0011420	Age of death	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0040006	HP:0011420	Age of death	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0040006	HP:0011420	Age of death	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0040006	HP:0011420	Age of death	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0040006	HP:0011420	Age of death	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0040006	HP:0011420	Age of death	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0040006	HP:0011420	Age of death	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0040006	HP:0011420	Age of death	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0040006	HP:0011420	Age of death	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0040006	HP:0011420	Age of death	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis		49
HP:0040006	HP:0011420	Age of death	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0040006	HP:0011420	Age of death	1	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type		74
HP:0040006	HP:0011420	Age of death	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0040006	HP:0011420	Age of death	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0040006	HP:0011420	Age of death	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0040006	HP:0011420	Age of death	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0040006	HP:0011420	Age of death	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0040006	HP:0011420	Age of death	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0040006	HP:0011420	Age of death	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0040006	HP:0011420	Age of death	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0040006	HP:0011420	Age of death	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0040006	HP:0011420	Age of death	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0040006	HP:0011420	Age of death	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0040006	HP:0011420	Age of death	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0040006	HP:0011420	Age of death	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040006	HP:0011420	Age of death	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0040006	HP:0011420	Age of death	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0040006	HP:0011420	Age of death	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0040006	HP:0011420	Age of death	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0040006	HP:0011420	Age of death	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0040006	HP:0011420	Age of death	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0040006	HP:0011420	Age of death	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0040006	HP:0011420	Age of death	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0040006	HP:0011420	Age of death	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0040006	HP:0011420	Age of death	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0040006	HP:0011420	Age of death	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0040006	HP:0011420	Age of death	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0040006	HP:0011420	Age of death	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0040006	HP:0011420	Age of death	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0040006	HP:0011420	Age of death	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0040006	HP:0011420	Age of death	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040006	HP:0011420	Age of death	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0040006	HP:0011420	Age of death	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0040006	HP:0011420	Age of death	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0040006	HP:0011420	Age of death	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0040006	HP:0011420	Age of death	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12		16
HP:0040006	HP:0011420	Age of death	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0040006	HP:0011420	Age of death	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0040006	HP:0011420	Age of death	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0040006	HP:0011420	Age of death	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0040006	HP:0011420	Age of death	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0040006	HP:0011420	Age of death	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040006	HP:0011420	Age of death	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0040006	HP:0011420	Age of death	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0040006	HP:0011420	Age of death	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040006	HP:0011420	Age of death	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0040006	HP:0011420	Age of death	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0040006	HP:0011420	Age of death	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0040006	HP:0011420	Age of death	1	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis		3
HP:0040006	HP:0011420	Age of death	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0040006	HP:0011420	Age of death	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0040006	HP:0011420	Age of death	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0040006	HP:0011420	Age of death	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0040006	HP:0011420	Age of death	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0011420	Age of death	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0040006	HP:0011420	Age of death	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0040006	HP:0011420	Age of death	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0040006	HP:0011420	Age of death	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0040006	HP:0011420	Age of death	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0040006	HP:0011420	Age of death	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0040006	HP:0011420	Age of death	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0040006	HP:0011420	Age of death	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040006	HP:0011420	Age of death	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0040006	HP:0011420	Age of death	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0040006	HP:0011420	Age of death	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0040006	HP:0011420	Age of death	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0040006	HP:0011420	Age of death	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0040006	HP:0011420	Age of death	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0040006	HP:0011420	Age of death	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0040006	HP:0011420	Age of death	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0040006	HP:0011420	Age of death	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0040006	HP:0011420	Age of death	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0040006	HP:0011420	Age of death	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0040006	HP:0011420	Age of death	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0040006	HP:0011420	Age of death	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0040006	HP:0011420	Age of death	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0040006	HP:0011420	Age of death	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0040006	HP:0011420	Age of death	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0040006	HP:0011420	Age of death	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0040006	HP:0011420	Age of death	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0040006	HP:0011420	Age of death	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0040006	HP:0011420	Age of death	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0040006	HP:0011420	Age of death	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0040006	HP:0011420	Age of death	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0040006	HP:0011420	Age of death	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0040006	HP:0011420	Age of death	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0040006	HP:0011420	Age of death	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0040006	HP:0011420	Age of death	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0040006	HP:0011420	Age of death	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0040006	HP:0011420	Age of death	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0040006	HP:0011420	Age of death	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0040006	HP:0011420	Age of death	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0040006	HP:0011420	Age of death	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0040006	HP:0011420	Age of death	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0040006	HP:0011420	Age of death	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0040006	HP:0011420	Age of death	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0040006	HP:0011420	Age of death	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0040006	HP:0011420	Age of death	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0040006	HP:0011420	Age of death	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0040006	HP:0011420	Age of death	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0040006	HP:0011420	Age of death	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0011420	Age of death	1	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia		47
HP:0040006	HP:0011420	Age of death	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0011420	Age of death	1	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia		62
HP:0040006	HP:0011420	Age of death	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0040006	HP:0011420	Age of death	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0040006	HP:0011420	Age of death	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0040006	HP:0011420	Age of death	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0011420	Age of death	1	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia		34
HP:0040006	HP:0011420	Age of death	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0040006	HP:0011420	Age of death	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0040006	HP:0011420	Age of death	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0040006	HP:0011420	Age of death	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0040006	HP:0011420	Age of death	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0040006	HP:0011420	Age of death	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0040006	HP:0011420	Age of death	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0040006	HP:0011420	Age of death	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0040006	HP:0011420	Age of death	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0040006	HP:0011420	Age of death	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0040006	HP:0011420	Age of death	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0040006	HP:0011420	Age of death	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040006	HP:0011420	Age of death	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040006	HP:0011420	Age of death	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0040006	HP:0011420	Age of death	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0040006	HP:0011420	Age of death	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0040006	HP:0011420	Age of death	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0040006	HP:0011420	Age of death	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0040006	HP:0011420	Age of death	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0040006	HP:0011420	Age of death	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0040006	HP:0011420	Age of death	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0040006	HP:0011420	Age of death	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0040006	HP:0011420	Age of death	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1		45
HP:0040006	HP:0011420	Age of death	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0040006	HP:0011420	Age of death	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0040006	HP:0011420	Age of death	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0040006	HP:0011420	Age of death	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0040006	HP:0011420	Age of death	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0040006	HP:0011420	Age of death	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0040006	HP:0011420	Age of death	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0040006	HP:0011420	Age of death	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0040006	HP:0011420	Age of death	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0040006	HP:0011420	Age of death	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0011420	Age of death	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0011420	Age of death	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0011420	Age of death	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0040006	HP:0011420	Age of death	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0040006	HP:0011420	Age of death	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0040006	HP:0011420	Age of death	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0040006	HP:0011420	Age of death	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0040006	HP:0011420	Age of death	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0040006	HP:0011420	Age of death	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0040006	HP:0011420	Age of death	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0040006	HP:0011420	Age of death	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0040006	HP:0011420	Age of death	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0040006	HP:0011420	Age of death	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0040006	HP:0011420	Age of death	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0040006	HP:0011420	Age of death	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0011420	Age of death	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0040006	HP:0011420	Age of death	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0040006	HP:0011420	Age of death	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0040006	HP:0011420	Age of death	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0040006	HP:0011420	Age of death	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0040006	HP:0011420	Age of death	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0040006	HP:0011420	Age of death	1	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0040006	HP:0011420	Age of death	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040006	HP:0011420	Age of death	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0040006	HP:0011420	Age of death	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0040006	HP:0011420	Age of death	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0040006	HP:0011420	Age of death	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0040006	HP:0011420	Age of death	1	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0040006	HP:0011420	Age of death	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0040006	HP:0011420	Age of death	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0040006	HP:0011420	Age of death	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0040006	HP:0011420	Age of death	1	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0040006	HP:0011420	Age of death	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0040006	HP:0011420	Age of death	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0040006	HP:0011420	Age of death	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0040006	HP:0011420	Age of death	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0040006	HP:0011420	Age of death	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0040006	HP:0011420	Age of death	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0040006	HP:0011420	Age of death	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0040006	HP:0011420	Age of death	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0040006	HP:0011420	Age of death	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0040006	HP:0011420	Age of death	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation		645
HP:0040006	HP:0011420	Age of death	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0040006	HP:0011420	Age of death	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0040006	HP:0011420	Age of death	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0040006	HP:0011420	Age of death	1	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0040006	HP:0011420	Age of death	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0040006	HP:0011420	Age of death	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0040006	HP:0011420	Age of death	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0040006	HP:0011420	Age of death	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0040006	HP:0011420	Age of death	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0040006	HP:0011420	Age of death	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0011420	Age of death	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0040006	HP:0011420	Age of death	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0011420	Age of death	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0040006	HP:0011420	Age of death	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0040006	HP:0011420	Age of death	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0040006	HP:0011420	Age of death	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0040006	HP:0011420	Age of death	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0040006	HP:0011420	Age of death	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0011420	Age of death	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0040006	HP:0011420	Age of death	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0040006	HP:0011420	Age of death	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0040006	HP:0011420	Age of death	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0040006	HP:0011420	Age of death	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0040006	HP:0011420	Age of death	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0040006	HP:0011420	Age of death	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0040006	HP:0011420	Age of death	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0040006	HP:0011420	Age of death	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0040006	HP:0011420	Age of death	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0040006	HP:0011420	Age of death	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0040006	HP:0011420	Age of death	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0040006	HP:0011420	Age of death	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0040006	HP:0011420	Age of death	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0040006	HP:0011420	Age of death	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0040006	HP:0011420	Age of death	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0040006	HP:0011420	Age of death	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0040006	HP:0011420	Age of death	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0040006	HP:0011420	Age of death	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0040006	HP:0011420	Age of death	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0040006	HP:0011420	Age of death	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0040006	HP:0011420	Age of death	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0040006	HP:0011420	Age of death	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0040006	HP:0011420	Age of death	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0040006	HP:0011420	Age of death	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0040006	HP:0011420	Age of death	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0040006	HP:0011420	Age of death	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0040006	HP:0011420	Age of death	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0040006	HP:0011420	Age of death	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13		19
HP:0040006	HP:0011420	Age of death	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0040006	HP:0011420	Age of death	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0040006	HP:0011420	Age of death	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040006	HP:0011420	Age of death	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30		3
HP:0040006	HP:0011420	Age of death	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040006	HP:0011420	Age of death	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0040006	HP:0011420	Age of death	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0040006	HP:0011420	Age of death	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0040006	HP:0011420	Age of death	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0040006	HP:0011420	Age of death	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0040006	HP:0011420	Age of death	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040006	HP:0011420	Age of death	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0040006	HP:0011420	Age of death	1	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0040006	HP:0011420	Age of death	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0040006	HP:0011420	Age of death	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0040006	HP:0011420	Age of death	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0040006	HP:0011420	Age of death	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0040006	HP:0011420	Age of death	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0040006	HP:0011420	Age of death	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0040006	HP:0011420	Age of death	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0040006	HP:0011420	Age of death	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0040006	HP:0011420	Age of death	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0040006	HP:0011420	Age of death	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0040006	HP:0011420	Age of death	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0040006	HP:0011420	Age of death	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0040006	HP:0011420	Age of death	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0040006	HP:0011420	Age of death	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0040006	HP:0011420	Age of death	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0011420	Age of death	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0040006	HP:0011420	Age of death	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0040006	HP:0011420	Age of death	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0040006	HP:0011420	Age of death	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0040006	HP:0011420	Age of death	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0040006	HP:0011420	Age of death	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0040006	HP:0011420	Age of death	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0040006	HP:0011420	Age of death	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0040006	HP:0011420	Age of death	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0040006	HP:0011420	Age of death	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0040006	HP:0011420	Age of death	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0040006	HP:0011420	Age of death	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0040006	HP:0011420	Age of death	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0040006	HP:0011420	Age of death	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0040006	HP:0011420	Age of death	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0040006	HP:0011420	Age of death	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0040006	HP:0011420	Age of death	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0040006	HP:0011420	Age of death	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0040006	HP:0011420	Age of death	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)		98
HP:0040006	HP:0011420	Age of death	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0040006	HP:0011420	Age of death	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0040006	HP:0011420	Age of death	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0040006	HP:0011420	Age of death	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0040006	HP:0011420	Age of death	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0040006	HP:0011420	Age of death	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040006	HP:0011420	Age of death	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0040006	HP:0011420	Age of death	1	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3		1
HP:0040006	HP:0011420	Age of death	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0040006	HP:0011420	Age of death	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0040006	HP:0011420	Age of death	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0040006	HP:0011420	Age of death	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0040006	HP:0011420	Age of death	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0040006	HP:0011420	Age of death	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0040006	HP:0011420	Age of death	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0040006	HP:0011420	Age of death	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0040006	HP:0011420	Age of death	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0040006	HP:0011420	Age of death	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0040006	HP:0011420	Age of death	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0040006	HP:0011420	Age of death	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0040006	HP:0011420	Age of death	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0040006	HP:0011420	Age of death	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0040006	HP:0011420	Age of death	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0040006	HP:0011420	Age of death	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0040006	HP:0011420	Age of death	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0040006	HP:0011420	Age of death	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0040006	HP:0011420	Age of death	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0040006	HP:0011420	Age of death	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0040006	HP:0011420	Age of death	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0040006	HP:0011420	Age of death	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0040006	HP:0011420	Age of death	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0040006	HP:0011420	Age of death	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0040006	HP:0011420	Age of death	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency		81
HP:0040006	HP:0011420	Age of death	1	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency		81
HP:0040006	HP:0011420	Age of death	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0040006	HP:0011420	Age of death	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0040006	HP:0011420	Age of death	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0040006	HP:0011420	Age of death	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0040006	HP:0011420	Age of death	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0040006	HP:0011420	Age of death	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0040006	HP:0011420	Age of death	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040006	HP:0011420	Age of death	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0040006	HP:0011420	Age of death	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0011420	Age of death	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0040006	HP:0011420	Age of death	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0040006	HP:0011420	Age of death	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0040006	HP:0011420	Age of death	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0040006	HP:0011420	Age of death	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0040006	HP:0011420	Age of death	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0040006	HP:0011420	Age of death	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0040006	HP:0011420	Age of death	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0040006	HP:0011420	Age of death	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0040006	HP:0011420	Age of death	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0040006	HP:0011420	Age of death	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0040006	HP:0011420	Age of death	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0040006	HP:0011420	Age of death	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040006	HP:0011420	Age of death	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0040006	HP:0011420	Age of death	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0040006	HP:0011420	Age of death	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0040006	HP:0011420	Age of death	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0040006	HP:0011420	Age of death	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0040006	HP:0011420	Age of death	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0040006	HP:0011420	Age of death	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0040006	HP:0011420	Age of death	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0040006	HP:0011420	Age of death	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0040006	HP:0011420	Age of death	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0040006	HP:0011420	Age of death	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0040006	HP:0011420	Age of death	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0040006	HP:0011420	Age of death	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0040006	HP:0011420	Age of death	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0040006	HP:0011420	Age of death	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0040006	HP:0011420	Age of death	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67		11
HP:0040006	HP:0011420	Age of death	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0040006	HP:0011420	Age of death	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0040006	HP:0011420	Age of death	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3		166
HP:0040006	HP:0011420	Age of death	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0040006	HP:0011420	Age of death	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0040006	HP:0011420	Age of death	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0040006	HP:0011420	Age of death	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0040006	HP:0011420	Age of death	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0040006	HP:0011420	Age of death	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0040006	HP:0011420	Age of death	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0040006	HP:0011420	Age of death	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0040006	HP:0011420	Age of death	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0040006	HP:0011420	Age of death	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0040006	HP:0011420	Age of death	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0040006	HP:0011420	Age of death	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0040006	HP:0011420	Age of death	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0040006	HP:0011420	Age of death	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0040006	HP:0011420	Age of death	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0040006	HP:0011420	Age of death	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040006	HP:0011420	Age of death	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0040006	HP:0011420	Age of death	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0040006	HP:0011420	Age of death	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040006	HP:0011420	Age of death	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0040006	HP:0011420	Age of death	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0040006	HP:0011420	Age of death	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0040006	HP:0011420	Age of death	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0040006	HP:0011420	Age of death	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0040006	HP:0011420	Age of death	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0040006	HP:0011420	Age of death	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0040006	HP:0011420	Age of death	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0040006	HP:0011420	Age of death	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0040006	HP:0011420	Age of death	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0040006	HP:0011420	Age of death	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0040006	HP:0011420	Age of death	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0040006	HP:0011420	Age of death	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0040006	HP:0011420	Age of death	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0040006	HP:0011420	Age of death	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0040006	HP:0011420	Age of death	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0040006	HP:0011420	Age of death	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0040006	HP:0011420	Age of death	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:0040006	HP:0011420	Age of death	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0040006	HP:0011420	Age of death	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040006	HP:0011420	Age of death	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0011420	Age of death	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0011420	Age of death	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0040006	HP:0011420	Age of death	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0040006	HP:0011420	Age of death	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0040006	HP:0011420	Age of death	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0040006	HP:0011420	Age of death	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome		1
HP:0040006	HP:0011420	Age of death	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0040006	HP:0011420	Age of death	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0040006	HP:0011420	Age of death	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0040006	HP:0011420	Age of death	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0040006	HP:0011420	Age of death	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0040006	HP:0011420	Age of death	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0040006	HP:0011420	Age of death	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0040006	HP:0011420	Age of death	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0040006	HP:0011420	Age of death	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0040006	HP:0011420	Age of death	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0040006	HP:0011420	Age of death	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0040006	HP:0011420	Age of death	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0040006	HP:0011420	Age of death	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0040006	HP:0011420	Age of death	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0040006	HP:0011420	Age of death	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0040006	HP:0011420	Age of death	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0040006	HP:0011420	Age of death	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0011420	Age of death	1	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0040006	HP:0011420	Age of death	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0040006	HP:0011420	Age of death	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0040006	HP:0011420	Age of death	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0040006	HP:0011420	Age of death	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0040006	HP:0001522	Death in infancy	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.	143
HP:0040006	HP:0003811	Neonatal death	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0040006	HP:0003819	Death in childhood	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0040006	HP:0003819	Death in childhood	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0040006	HP:0001522	Death in infancy	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0040006	HP:0003811	Neonatal death	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0040006	HP:0003819	Death in childhood	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0040006	HP:0003819	Death in childhood	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0040006	HP:0001522	Death in infancy	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0040006	HP:0001522	Death in infancy	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0040006	HP:0001522	Death in infancy	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent	120
HP:0040006	HP:0033763	Death in adulthood	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0040006	HP:0001522	Death in infancy	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0040006	HP:0003819	Death in childhood	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0040006	HP:0011421	Death in adolescence	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0040006	HP:0003819	Death in childhood	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0040006	HP:0001522	Death in infancy	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0040006	HP:0001522	Death in infancy	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0040006	HP:0001522	Death in infancy	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0040006	HP:0034241	Prenatal death	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0040006	HP:0001522	Death in infancy	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0040006	HP:0001522	Death in infancy	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0040006	HP:0001522	Death in infancy	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0040006	HP:0003811	Neonatal death	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0040006	HP:0001522	Death in infancy	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0040006	HP:0034241	Prenatal death	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0040006	HP:0001522	Death in infancy	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0040006	HP:0001522	Death in infancy	2	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040282 - Frequent	49
HP:0040006	HP:0003819	Death in childhood	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0040006	HP:0001522	Death in infancy	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0040006	HP:0003811	Neonatal death	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0040006	HP:0033763	Death in adulthood	2	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type		74
HP:0040006	HP:0001522	Death in infancy	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040282 - Frequent	166
HP:0040006	HP:0001522	Death in infancy	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent	15
HP:0040006	HP:0001522	Death in infancy	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0040006	HP:0003811	Neonatal death	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0040006	HP:0003819	Death in childhood	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0040006	HP:0003819	Death in childhood	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0040006	HP:0001522	Death in infancy	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0040006	HP:0003811	Neonatal death	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0040006	HP:0003819	Death in childhood	2	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0040006	HP:0001522	Death in infancy	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0040006	HP:0003819	Death in childhood	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0040006	HP:0003819	Death in childhood	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0040006	HP:0001522	Death in infancy	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0040006	HP:0033763	Death in adulthood	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0040006	HP:0033763	Death in adulthood	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0040006	HP:0033763	Death in adulthood	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040006	HP:0003811	Neonatal death	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0040006	HP:0034241	Prenatal death	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0040006	HP:0001522	Death in infancy	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040283 - Occasional	90
HP:0040006	HP:0001522	Death in infancy	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0040006	HP:0001522	Death in infancy	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0040006	HP:0033763	Death in adulthood	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0040006	HP:0003819	Death in childhood	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0040006	HP:0001522	Death in infancy	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0040006	HP:0003819	Death in childhood	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0040006	HP:0034241	Prenatal death	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0040006	HP:0001522	Death in infancy	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0040006	HP:0001522	Death in infancy	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0040006	HP:0003819	Death in childhood	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0040006	HP:0001522	Death in infancy	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0040006	HP:0001522	Death in infancy	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0040006	HP:0003811	Neonatal death	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0040006	HP:0001522	Death in infancy	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0040006	HP:0001522	Death in infancy	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0040006	HP:0034241	Prenatal death	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0040006	HP:0034241	Prenatal death	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040006	HP:0003811	Neonatal death	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040006	HP:0001522	Death in infancy	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0040006	HP:0003819	Death in childhood	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0040006	HP:0033763	Death in adulthood	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0040006	HP:0034241	Prenatal death	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0040006	HP:0001522	Death in infancy	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0040006	HP:0001522	Death in infancy	2	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0040006	HP:0001522	Death in infancy	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0040006	HP:0034241	Prenatal death	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0040006	HP:0034241	Prenatal death	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0040006	HP:0034241	Prenatal death	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0040006	HP:0001522	Death in infancy	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0040006	HP:0001522	Death in infancy	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040006	HP:0003819	Death in childhood	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0040006	HP:0001522	Death in infancy	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0040006	HP:0011421	Death in adolescence	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0040006	HP:0001522	Death in infancy	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040006	HP:0001522	Death in infancy	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0040006	HP:0001522	Death in infancy	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0040006	HP:0001522	Death in infancy	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0040006	HP:0033763	Death in adulthood	2	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis		3
HP:0040006	HP:0003811	Neonatal death	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0040006	HP:0001522	Death in infancy	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0040006	HP:0001522	Death in infancy	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0040006	HP:0003819	Death in childhood	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0040006	HP:0034241	Prenatal death	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0001522	Death in infancy	2	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0040006	HP:0033763	Death in adulthood	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0040006	HP:0001522	Death in infancy	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0040006	HP:0034241	Prenatal death	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0040006	HP:0001522	Death in infancy	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0040006	HP:0001522	Death in infancy	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.	55
HP:0040006	HP:0001522	Death in infancy	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0040006	HP:0001522	Death in infancy	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0040006	HP:0033763	Death in adulthood	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040006	HP:0011421	Death in adolescence	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040006	HP:0003811	Neonatal death	2	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0040006	HP:0003819	Death in childhood	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0040006	HP:0001522	Death in infancy	2	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0040006	HP:0001522	Death in infancy	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0040006	HP:0003811	Neonatal death	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0040006	HP:0001522	Death in infancy	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0040006	HP:0003819	Death in childhood	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0040006	HP:0033763	Death in adulthood	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0040006	HP:0033763	Death in adulthood	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0040006	HP:0001522	Death in infancy	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent	2
HP:0040006	HP:0034241	Prenatal death	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0040006	HP:0001522	Death in infancy	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0040006	HP:0033763	Death in adulthood	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0040006	HP:0001522	Death in infancy	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0040006	HP:0003819	Death in childhood	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0040006	HP:0001522	Death in infancy	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0040006	HP:0003819	Death in childhood	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0040006	HP:0001522	Death in infancy	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0040006	HP:0001522	Death in infancy	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0040006	HP:0011421	Death in adolescence	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0040006	HP:0001522	Death in infancy	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0040006	HP:0003819	Death in childhood	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0040006	HP:0003819	Death in childhood	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0040006	HP:0001522	Death in infancy	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0040006	HP:0034241	Prenatal death	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0040006	HP:0003811	Neonatal death	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0040006	HP:0003811	Neonatal death	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0040006	HP:0003811	Neonatal death	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0040006	HP:0001522	Death in infancy	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0040006	HP:0011421	Death in adolescence	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0040006	HP:0003819	Death in childhood	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0040006	HP:0001522	Death in infancy	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0040006	HP:0003819	Death in childhood	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0040006	HP:0001522	Death in infancy	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0040006	HP:0003811	Neonatal death	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0040006	HP:0001522	Death in infancy	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0040006	HP:0033763	Death in adulthood	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0040006	HP:0001522	Death in infancy	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0040006	HP:0001522	Death in infancy	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0040006	HP:0003811	Neonatal death	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0040006	HP:0003819	Death in childhood	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0040006	HP:0001522	Death in infancy	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0040006	HP:0034241	Prenatal death	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0040006	HP:0003819	Death in childhood	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0040006	HP:0011421	Death in adolescence	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0001522	Death in infancy	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0003819	Death in childhood	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0003811	Neonatal death	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0040006	HP:0034241	Prenatal death	2	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia		47
HP:0040006	HP:0001522	Death in infancy	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0003811	Neonatal death	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0003819	Death in childhood	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0011421	Death in adolescence	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0040006	HP:0034241	Prenatal death	2	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia		62
HP:0040006	HP:0001522	Death in infancy	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0040006	HP:0003811	Neonatal death	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0040006	HP:0003811	Neonatal death	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0040006	HP:0011421	Death in adolescence	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0001522	Death in infancy	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0003811	Neonatal death	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0003819	Death in childhood	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0040006	HP:0034241	Prenatal death	2	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia		34
HP:0040006	HP:0033763	Death in adulthood	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0040006	HP:0003819	Death in childhood	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0040006	HP:0001522	Death in infancy	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0040006	HP:0034241	Prenatal death	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0040006	HP:0034241	Prenatal death	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0040006	HP:0003811	Neonatal death	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0040006	HP:0034241	Prenatal death	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0040006	HP:0003811	Neonatal death	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0040006	HP:0003811	Neonatal death	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0040006	HP:0001522	Death in infancy	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0040006	HP:0001522	Death in infancy	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0040006	HP:0003819	Death in childhood	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0040006	HP:0001522	Death in infancy	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0040006	HP:0003811	Neonatal death	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040006	HP:0003819	Death in childhood	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040006	HP:0001522	Death in infancy	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040006	HP:0003811	Neonatal death	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040006	HP:0003811	Neonatal death	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0040006	HP:0034241	Prenatal death	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0040006	HP:0001522	Death in infancy	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0040006	HP:0003811	Neonatal death	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0040006	HP:0001522	Death in infancy	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0040006	HP:0001522	Death in infancy	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040283 - Occasional	52
HP:0040006	HP:0001522	Death in infancy	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0040006	HP:0034241	Prenatal death	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0040006	HP:0003819	Death in childhood	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0040006	HP:0011421	Death in adolescence	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0040006	HP:0001522	Death in infancy	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0040006	HP:0001522	Death in infancy	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0040006	HP:0001522	Death in infancy	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0040006	HP:0003811	Neonatal death	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0040006	HP:0003811	Neonatal death	2	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.	45
HP:0040006	HP:0003811	Neonatal death	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0040006	HP:0003811	Neonatal death	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0040006	HP:0003819	Death in childhood	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0040006	HP:0001522	Death in infancy	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0040006	HP:0001522	Death in infancy	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0040006	HP:0003811	Neonatal death	2	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0040006	HP:0001522	Death in infancy	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0040006	HP:0001522	Death in infancy	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0040006	HP:0001522	Death in infancy	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0040006	HP:0033763	Death in adulthood	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0033763	Death in adulthood	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0033763	Death in adulthood	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0034241	Prenatal death	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0040006	HP:0001522	Death in infancy	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent	2
HP:0040006	HP:0001522	Death in infancy	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0040006	HP:0003819	Death in childhood	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0040006	HP:0003819	Death in childhood	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0040006	HP:0034241	Prenatal death	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0040006	HP:0003811	Neonatal death	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0040006	HP:0034241	Prenatal death	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0040006	HP:0001522	Death in infancy	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0040006	HP:0003811	Neonatal death	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0040006	HP:0001522	Death in infancy	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0040006	HP:0034241	Prenatal death	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0040006	HP:0001522	Death in infancy	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0040006	HP:0003811	Neonatal death	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0011421	Death in adolescence	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0034241	Prenatal death	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0003811	Neonatal death	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0040006	HP:0003811	Neonatal death	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0040006	HP:0001522	Death in infancy	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0040006	HP:0001522	Death in infancy	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0040006	HP:0034241	Prenatal death	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0040006	HP:0001522	Death in infancy	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0040006	HP:0003811	Neonatal death	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0040006	HP:0001522	Death in infancy	2	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0040006	HP:0003819	Death in childhood	2	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0040006	HP:0003819	Death in childhood	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040006	HP:0001522	Death in infancy	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0040006	HP:0001522	Death in infancy	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0040006	HP:0033763	Death in adulthood	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0040006	HP:0001522	Death in infancy	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0040006	HP:0003819	Death in childhood	2	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0040006	HP:0001522	Death in infancy	2	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0040006	HP:0001522	Death in infancy	2	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0040006	HP:0003819	Death in childhood	2	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0040006	HP:0001522	Death in infancy	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0040006	HP:0003819	Death in childhood	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0040006	HP:0001522	Death in infancy	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0040006	HP:0001522	Death in infancy	2	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0040006	HP:0033763	Death in adulthood	2	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0040006	HP:0001522	Death in infancy	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0040006	HP:0003819	Death in childhood	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0040006	HP:0001522	Death in infancy	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0040006	HP:0003811	Neonatal death	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0040006	HP:0034241	Prenatal death	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0040006	HP:0034241	Prenatal death	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0040006	HP:0001522	Death in infancy	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0040006	HP:0001522	Death in infancy	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0040006	HP:0033763	Death in adulthood	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0040006	HP:0001522	Death in infancy	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0040006	HP:0001522	Death in infancy	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0040006	HP:0001522	Death in infancy	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0040006	HP:0001522	Death in infancy	2	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0040006	HP:0001522	Death in infancy	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0040006	HP:0003811	Neonatal death	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0040006	HP:0003811	Neonatal death	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0040006	HP:0001522	Death in infancy	2	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0040006	HP:0003819	Death in childhood	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0040006	HP:0003819	Death in childhood	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0040006	HP:0011421	Death in adolescence	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0040006	HP:0001522	Death in infancy	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0040006	HP:0003819	Death in childhood	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0040006	HP:0003811	Neonatal death	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0040006	HP:0003811	Neonatal death	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0040006	HP:0011421	Death in adolescence	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0040006	HP:0034241	Prenatal death	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040006	HP:0001522	Death in infancy	2	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0040006	HP:0033763	Death in adulthood	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0003819	Death in childhood	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0040006	HP:0003819	Death in childhood	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0040006	HP:0011421	Death in adolescence	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0040006	HP:0034241	Prenatal death	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0040006	HP:0001522	Death in infancy	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0040006	HP:0033763	Death in adulthood	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0040006	HP:0001522	Death in infancy	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0040006	HP:0033763	Death in adulthood	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0040006	HP:0033763	Death in adulthood	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0040006	HP:0003811	Neonatal death	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0040006	HP:0001522	Death in infancy	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0040006	HP:0003819	Death in childhood	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0040006	HP:0034241	Prenatal death	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0040006	HP:0003819	Death in childhood	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0040006	HP:0003819	Death in childhood	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0040006	HP:0001522	Death in infancy	2	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0040006	HP:0003811	Neonatal death	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0040006	HP:0001522	Death in infancy	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0040006	HP:0001522	Death in infancy	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0040006	HP:0033763	Death in adulthood	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0040006	HP:0001522	Death in infancy	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0040006	HP:0033763	Death in adulthood	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0040006	HP:0001522	Death in infancy	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0040006	HP:0034241	Prenatal death	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0040006	HP:0003819	Death in childhood	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0040006	HP:0034241	Prenatal death	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0040006	HP:0034241	Prenatal death	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0040006	HP:0001522	Death in infancy	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0040006	HP:0033763	Death in adulthood	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0040006	HP:0033763	Death in adulthood	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0040006	HP:0001522	Death in infancy	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	HP:0040284 - Very rare
HP:0040006	HP:0001522	Death in infancy	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0040006	HP:0001522	Death in infancy	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0040006	HP:0001522	Death in infancy	2	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0040006	HP:0001522	Death in infancy	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0040006	HP:0001522	Death in infancy	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0040006	HP:0003819	Death in childhood	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0040006	HP:0003819	Death in childhood	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0040006	HP:0033763	Death in adulthood	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0040006	HP:0001522	Death in infancy	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0040006	HP:0001522	Death in infancy	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.	31
HP:0040006	HP:0003811	Neonatal death	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0040006	HP:0003811	Neonatal death	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040006	HP:0003811	Neonatal death	2	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0040006	HP:0001522	Death in infancy	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040006	HP:0003819	Death in childhood	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0040006	HP:0003819	Death in childhood	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0040006	HP:0001522	Death in infancy	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0040006	HP:0003811	Neonatal death	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0040006	HP:0034241	Prenatal death	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0040006	HP:0003819	Death in childhood	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0040006	HP:0001522	Death in infancy	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0040006	HP:0003811	Neonatal death	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040006	HP:0001522	Death in infancy	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040006	HP:0003819	Death in childhood	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0040006	HP:0034241	Prenatal death	2	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0040006	HP:0003819	Death in childhood	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0040006	HP:0001522	Death in infancy	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0040006	HP:0003811	Neonatal death	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0040006	HP:0001522	Death in infancy	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0040006	HP:0001522	Death in infancy	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0040006	HP:0034241	Prenatal death	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0040006	HP:0034241	Prenatal death	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0040006	HP:0001522	Death in infancy	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0040006	HP:0001522	Death in infancy	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0040006	HP:0001522	Death in infancy	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0040006	HP:0011421	Death in adolescence	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0040006	HP:0003819	Death in childhood	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0040006	HP:0001522	Death in infancy	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0040006	HP:0003819	Death in childhood	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0040006	HP:0001522	Death in infancy	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0040006	HP:0034241	Prenatal death	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0040006	HP:0003811	Neonatal death	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0040006	HP:0001522	Death in infancy	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0003811	Neonatal death	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0011421	Death in adolescence	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0003819	Death in childhood	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040006	HP:0003819	Death in childhood	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0040006	HP:0001522	Death in infancy	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0040006	HP:0001522	Death in infancy	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0040006	HP:0001522	Death in infancy	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0040006	HP:0001522	Death in infancy	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0040006	HP:0001522	Death in infancy	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0040006	HP:0001522	Death in infancy	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0040006	HP:0001522	Death in infancy	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0040006	HP:0001522	Death in infancy	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0040006	HP:0001522	Death in infancy	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0040006	HP:0003819	Death in childhood	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0040006	HP:0001522	Death in infancy	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0040006	HP:0001522	Death in infancy	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0040006	HP:0001522	Death in infancy	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0040006	HP:0001522	Death in infancy	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0040006	HP:0001522	Death in infancy	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0040006	HP:0003819	Death in childhood	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0040006	HP:0001522	Death in infancy	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0040006	HP:0001522	Death in infancy	2	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0040006	HP:0001522	Death in infancy	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0040006	HP:0034241	Prenatal death	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0040006	HP:0001522	Death in infancy	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent	86
HP:0040006	HP:0001522	Death in infancy	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0040006	HP:0001522	Death in infancy	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0040006	HP:0003819	Death in childhood	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040006	HP:0001522	Death in infancy	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040006	HP:0001522	Death in infancy	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0040006	HP:0033763	Death in adulthood	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0040006	HP:0003811	Neonatal death	2	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3		1
HP:0040006	HP:0034241	Prenatal death	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0040006	HP:0003811	Neonatal death	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	HP:0040283 - Occasional	563
HP:0040006	HP:0003819	Death in childhood	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0040006	HP:0003811	Neonatal death	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0040006	HP:0001522	Death in infancy	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0040006	HP:0034241	Prenatal death	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0040006	HP:0001522	Death in infancy	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0040006	HP:0003819	Death in childhood	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0040006	HP:0001522	Death in infancy	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0040006	HP:0033763	Death in adulthood	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0040006	HP:0001522	Death in infancy	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0040006	HP:0001522	Death in infancy	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0040006	HP:0033763	Death in adulthood	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0040006	HP:0033763	Death in adulthood	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0040006	HP:0001522	Death in infancy	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0040006	HP:0033763	Death in adulthood	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0040006	HP:0033763	Death in adulthood	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0040006	HP:0001522	Death in infancy	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0040006	HP:0034241	Prenatal death	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0040006	HP:0001522	Death in infancy	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0040006	HP:0003819	Death in childhood	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0040006	HP:0003811	Neonatal death	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0040006	HP:0001522	Death in infancy	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0040006	HP:0001522	Death in infancy	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0040006	HP:0003819	Death in childhood	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0040006	HP:0001522	Death in infancy	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0040006	HP:0001522	Death in infancy	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0040006	HP:0003819	Death in childhood	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0040006	HP:0001522	Death in infancy	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0040006	HP:0001522	Death in infancy	2	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent	81
HP:0040006	HP:0001522	Death in infancy	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0040006	HP:0001522	Death in infancy	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0040006	HP:0011421	Death in adolescence	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0040006	HP:0001522	Death in infancy	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0040006	HP:0034241	Prenatal death	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0040006	HP:0003819	Death in childhood	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0040006	HP:0003811	Neonatal death	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040006	HP:0001522	Death in infancy	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040006	HP:0003819	Death in childhood	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0040006	HP:0003811	Neonatal death	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0001522	Death in infancy	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0034241	Prenatal death	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0003819	Death in childhood	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0040006	HP:0001522	Death in infancy	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0040006	HP:0034241	Prenatal death	2	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0040006	HP:0001522	Death in infancy	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent	572
HP:0040006	HP:0001522	Death in infancy	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0040006	HP:0033763	Death in adulthood	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0040006	HP:0034241	Prenatal death	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0040006	HP:0034241	Prenatal death	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0040006	HP:0034241	Prenatal death	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0040006	HP:0003819	Death in childhood	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0040006	HP:0001522	Death in infancy	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0040006	HP:0003819	Death in childhood	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0040006	HP:0003819	Death in childhood	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0040006	HP:0001522	Death in infancy	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040006	HP:0003819	Death in childhood	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040006	HP:0034241	Prenatal death	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040006	HP:0001522	Death in infancy	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0040006	HP:0001522	Death in infancy	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0040006	HP:0001522	Death in infancy	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0040006	HP:0033763	Death in adulthood	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0040006	HP:0034241	Prenatal death	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0040006	HP:0034241	Prenatal death	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0040006	HP:0011421	Death in adolescence	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0040006	HP:0001522	Death in infancy	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0040006	HP:0033763	Death in adulthood	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0040006	HP:0001522	Death in infancy	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0040006	HP:0001522	Death in infancy	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0040006	HP:0003819	Death in childhood	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0040006	HP:0003811	Neonatal death	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0040006	HP:0003819	Death in childhood	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0040006	HP:0034241	Prenatal death	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0040006	HP:0034241	Prenatal death	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0040006	HP:0003811	Neonatal death	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0040006	HP:0001522	Death in infancy	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0040006	HP:0001522	Death in infancy	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67		11
HP:0040006	HP:0003819	Death in childhood	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0040006	HP:0001522	Death in infancy	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0040006	HP:0003819	Death in childhood	2	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0040006	HP:0003811	Neonatal death	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0040006	HP:0001522	Death in infancy	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0040006	HP:0003811	Neonatal death	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0040006	HP:0001522	Death in infancy	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0040006	HP:0001522	Death in infancy	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0040006	HP:0034241	Prenatal death	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0040006	HP:0001522	Death in infancy	2	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0040006	HP:0034241	Prenatal death	2	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0040006	HP:0003819	Death in childhood	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0040006	HP:0034241	Prenatal death	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0040006	HP:0033763	Death in adulthood	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0040006	HP:0003819	Death in childhood	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0040006	HP:0001522	Death in infancy	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0040006	HP:0003819	Death in childhood	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0040006	HP:0001522	Death in infancy	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	HP:0040282 - Frequent	22
HP:0040006	HP:0001522	Death in infancy	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0040006	HP:0001522	Death in infancy	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0040006	HP:0003819	Death in childhood	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0040006	HP:0001522	Death in infancy	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0040006	HP:0001522	Death in infancy	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040006	HP:0003819	Death in childhood	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0040006	HP:0033763	Death in adulthood	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0040006	HP:0001522	Death in infancy	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0040006	HP:0003819	Death in childhood	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040006	HP:0001522	Death in infancy	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040006	HP:0003811	Neonatal death	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040006	HP:0001522	Death in infancy	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0040006	HP:0003819	Death in childhood	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0040006	HP:0003811	Neonatal death	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0040006	HP:0033763	Death in adulthood	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0040006	HP:0001522	Death in infancy	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0040006	HP:0033763	Death in adulthood	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0040006	HP:0001522	Death in infancy	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0040006	HP:0034241	Prenatal death	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0040006	HP:0003819	Death in childhood	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0040006	HP:0003819	Death in childhood	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0040006	HP:0001522	Death in infancy	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0040006	HP:0033763	Death in adulthood	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0040006	HP:0003811	Neonatal death	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0040006	HP:0003819	Death in childhood	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0040006	HP:0001522	Death in infancy	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0040006	HP:0003819	Death in childhood	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0040006	HP:0001522	Death in infancy	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0040006	HP:0033763	Death in adulthood	2	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0040006	HP:0001522	Death in infancy	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0040006	HP:0001522	Death in infancy	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0040006	HP:0011421	Death in adolescence	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0040006	HP:0003819	Death in childhood	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0040006	HP:0034241	Prenatal death	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0040006	HP:0001522	Death in infancy	2	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional	133
HP:0040006	HP:0001522	Death in infancy	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0040006	HP:0001522	Death in infancy	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040006	HP:0003819	Death in childhood	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0003819	Death in childhood	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0040006	HP:0003819	Death in childhood	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0040006	HP:0001522	Death in infancy	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0040006	HP:0003819	Death in childhood	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	HP:0040283 - Occasional	102
HP:0040006	HP:0001522	Death in infancy	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0040006	HP:0003819	Death in childhood	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0040006	HP:0001522	Death in infancy	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0040006	HP:0003811	Neonatal death	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0040006	HP:0001522	Death in infancy	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0040006	HP:0003819	Death in childhood	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0040006	HP:0001522	Death in infancy	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0040006	HP:0033763	Death in adulthood	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0040006	HP:0003819	Death in childhood	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0040006	HP:0001522	Death in infancy	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0040006	HP:0001522	Death in infancy	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0040006	HP:0003819	Death in childhood	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0040006	HP:0001522	Death in infancy	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0040006	HP:0001522	Death in infancy	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0040006	HP:0033763	Death in adulthood	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0040006	HP:0033763	Death in adulthood	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0040006	HP:0003819	Death in childhood	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0040006	HP:0001522	Death in infancy	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0040006	HP:0001522	Death in infancy	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0040006	HP:0034241	Prenatal death	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0040006	HP:0003819	Death in childhood	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0003811	Neonatal death	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0034241	Prenatal death	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0001522	Death in infancy	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0034241	Prenatal death	2	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0040006	HP:0003811	Neonatal death	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0040006	HP:0033763	Death in adulthood	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0040006	HP:0003811	Neonatal death	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0040006	HP:0034241	Prenatal death	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0040006	HP:0003819	Death in childhood	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0040006	HP:0001522	Death in infancy	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0040006	HP:0033765	Death in late adulthood	3	CL E G H
HP:0040006	HP:0100613	Death in early adulthood	3	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0040006	HP:0005268	Miscarriage	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104
HP:0040006	HP:0003826	Stillbirth	3	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0040006	HP:0100613	Death in early adulthood	3	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040283 - Occasional	74
HP:0040006	HP:0100613	Death in early adulthood	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040282 - Frequent	72
HP:0040006	HP:0005268	Miscarriage	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0040006	HP:0100613	Death in early adulthood	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0003826	Stillbirth	3	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0040006	HP:0003826	Stillbirth	3	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0040006	HP:0003826	Stillbirth	3	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040006	HP:0100613	Death in early adulthood	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0005268	Miscarriage	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0040006	HP:0003826	Stillbirth	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0040006	HP:0003826	Stillbirth	3	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0040006	HP:0003826	Stillbirth	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0040006	HP:0100613	Death in early adulthood	3	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis	HP:0040283 - Occasional	3
HP:0040006	HP:0005268	Miscarriage	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0040006	HP:0100613	Death in early adulthood	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0005268	Miscarriage	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0040006	HP:0100613	Death in early adulthood	3	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040006	HP:0100613	Death in early adulthood	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0040006	HP:0005268	Miscarriage	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0040006	HP:0100613	Death in early adulthood	3	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0040006	HP:0003826	Stillbirth	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	HP:0040283 - Occasional	92
HP:0040006	HP:0100613	Death in early adulthood	3	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0040006	HP:0005268	Miscarriage	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional	5
HP:0040006	HP:0005268	Miscarriage	3	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	47
HP:0040006	HP:0005268	Miscarriage	3	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	62
HP:0040006	HP:0005268	Miscarriage	3	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	34
HP:0040006	HP:0100613	Death in early adulthood	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0003826	Stillbirth	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0040006	HP:0003826	Stillbirth	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0040006	HP:0003826	Stillbirth	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0040006	HP:0003826	Stillbirth	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0040006	HP:0003826	Stillbirth	3	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0040006	HP:0100613	Death in early adulthood	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0040006	HP:0100613	Death in early adulthood	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0040006	HP:0100613	Death in early adulthood	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0040006	HP:0005268	Miscarriage	3	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040284 - Very rare	580
HP:0040006	HP:0005268	Miscarriage	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0040006	HP:0005268	Miscarriage	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent	345
HP:0040006	HP:0003826	Stillbirth	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0040006	HP:0003826	Stillbirth	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0040006	HP:0005268	Miscarriage	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0040006	HP:0100613	Death in early adulthood	3	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0040006	HP:0100613	Death in early adulthood	3	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0040006	HP:0003826	Stillbirth	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.	70
HP:0040006	HP:0003826	Stillbirth	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0040006	HP:0100613	Death in early adulthood	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0005268	Miscarriage	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0040006	HP:0100613	Death in early adulthood	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0040006	HP:0005268	Miscarriage	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0040006	HP:0100613	Death in early adulthood	3	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0040006	HP:0100613	Death in early adulthood	3	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0040006	HP:0100613	Death in early adulthood	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0040006	HP:0005268	Miscarriage	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0040006	HP:0100613	Death in early adulthood	3	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0040006	HP:0100613	Death in early adulthood	3	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0040006	HP:0005268	Miscarriage	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0040006	HP:0003826	Stillbirth	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0040006	HP:0005268	Miscarriage	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0040006	HP:0033764	Death in middle age	3	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0040006	HP:0100613	Death in early adulthood	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0040006	HP:0100613	Death in early adulthood	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0040006	HP:0003826	Stillbirth	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0040006	HP:0005268	Miscarriage	3	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0040006	HP:0005268	Miscarriage	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0040006	HP:0003826	Stillbirth	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0040006	HP:0003826	Stillbirth	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0040006	HP:0003826	Stillbirth	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0040006	HP:0100613	Death in early adulthood	3	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0040006	HP:0003826	Stillbirth	3	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0040006	HP:0005268	Miscarriage	3	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0040006	HP:0100613	Death in early adulthood	3	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0040006	HP:0100613	Death in early adulthood	3	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0040006	HP:0100613	Death in early adulthood	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0040006	HP:0100613	Death in early adulthood	3	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0040006	HP:0100613	Death in early adulthood	3	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0040006	HP:0003826	Stillbirth	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0040006	HP:0003826	Stillbirth	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0040006	HP:0005268	Miscarriage	3	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0040006	HP:0005268	Miscarriage	3	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0040006	HP:0100613	Death in early adulthood	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0005268	Miscarriage	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0040006	HP:0005268	Miscarriage	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0040006	HP:0005268	Miscarriage	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0040006	HP:0003826	Stillbirth	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0040006	HP:0100613	Death in early adulthood	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional	65
HP:0040006	HP:0005268	Miscarriage	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0040006	HP:0005268	Miscarriage	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0040006	HP:0100613	Death in early adulthood	3	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0040006	HP:0005268	Miscarriage	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0040006	HP:0005268	Miscarriage	3	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040282 - Frequent	39
HP:0040006	HP:0003826	Stillbirth	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0040006	HP:0003826	Stillbirth	3	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0040006	HP:0003826	Stillbirth	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0040006	HP:0100613	Death in early adulthood	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0040006	HP:0100613	Death in early adulthood	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0040006	HP:0005268	Miscarriage	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0040006	HP:0100613	Death in early adulthood	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0033764	Death in middle age	3	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0040006	HP:0003826	Stillbirth	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0040006	HP:0100613	Death in early adulthood	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0040006	HP:0100613	Death in early adulthood	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0040006	HP:0100613	Death in early adulthood	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0040006	HP:0005268	Miscarriage	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0040006	HP:0003826	Stillbirth	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040006	HP:0005268	Miscarriage	3	XIST CL E G H	7503	12810	OMIM:300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1		2
HP:0040006	HP:0100613	Death in early adulthood	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0040006	HP:0003826	Stillbirth	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (409) :AARS2 ABAT ABCA3 ABCB11 ACAD9 ACADVL ACOX1 ACTB ACTG2 ACTL6B ACTN2 ADCY5 AFF3 AIMP1 AIMP2 ALB ALG1 ALG14 ALG8 ALPL AMT ANTXR2 AP1S1 APP ARX ASCL1 ASXL3 ATAD3A ATG7 ATP1A2 ATP5MK ATP6AP1 ATP7A ATPAF2 ATRX BAZ1B BCL7B BCS1L BIN1 BMPR1B BOLA3 BRAT1 BUD23 C18ORF32 C2ORF69 CALCRL CCDC22 CD3G CD96 CDC40 CDK5 CDON CENPF CEP55 CLCF1 CLCN3 CLIP2 CLN8 CNTN1 COASY COG6 COL11A1 COL2A1 COX10 COX16 COX5A COX8A CPT2 CRIPT CRLF1 CRTAP CST3 CTSD DCX DHCR7 DLD DLK1 DLL3 DNAJC30 DNM1L DNM2 DOLK DPH5 DPM2 DSP DTYMK DYNLT2B ECHS1 EDNRB EFL1 EIF4H ELN EMG1 ENG EPCAM EPG5 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ESCO2 ETFA ETFB ETFDH ETHE1 EXOC8 EXOSC8 EXTL3 FADD FAM111A FAM20C FAN1 FANCB FARS2 FCGR3B FCHO1 FGA FGB FGFR3 FGG FKBP6 FKRP FLI1 FLNA FLNB FOXF1 FRAS1 FREM2 FTO FXR1 GAD1 GATC GBA1 GCSH GDF5 GFAP GLB1 GLDC GLE1 GLI3 GLUL GNPTAB GPC3 GPC4 GPHN GPR161 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 HBB HDAC6 HESX1 HEXB HMGCL HOXA13 HSPG2 HTRA2 HYLS1 IDUA IL6ST INTU ITGA6 ITGB4 ITPA JAK2 JAM3 JPH2 KARS1 KIF20A KLHL40 KRAS KRT5 LAMA3 LAMB2 LAMB3 LAMC2 LAT LBR LGI4 LHX4 LIFR LIMK1 LIPA LIPT1 LIPT2 LMNA LMOD1 LMOD2 LTC4S LYRM7 MADD MBTPS2 MDFIC MEG3 MESP2 METTL27 MFF MFSD2A MGP MLH1 MLH3 MLXIPL MOCS2 MPDU1 MPI MPL MRM2 MRPL3 MRPL44 MRPS16 MRPS22 MRPS34 MSH2 MSH6 MTMR14 MTX2 MUSK MYF6 MYH11 MYH6 MYH7 MYL1 MYL2 MYLK MYO5B NADK2 NADSYN1 NAXD NAXE NCF1 NDUFA2 NDUFAF3 NDUFAF4 NDUFB10 NDUFB11 NDUFS4 NDUFV1 NEB NEK8 NFIX NFS1 NFU1 NHLRC2 NLRP7 NPC2 NPHP3 NR1H4 NRAS NSD2 NSDHL NSF NXN OAS1 OCRL OGDH ORC1 OSTM1 PAICS PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PHOX2B PIGA PIGB PIGY PIK3CA PIP5K1C PITX1 PKHD1 PLCB3 PLEC PLIN1 PLXND1 PMM2 PMS1 PMS2 POLG POLG2 POLR3A POLR3B POMT2 POR PPCS PPFIBP1 PPIL1 PQBP1 PROKR2 PRPS1 PSAP PSAT1 PSMB8 PTF1A PTH1R PTPRC QRSL1 RAB27A RAD51C RARS2 RBM8A REC114 RET REV3L RFC2 RHAG RHCE RHD RINT1 RMND1 RNASEH2A RNASEH2C RNU4ATAC ROBO1 ROR2 RPL3L RPS6KA3 RTL1 RYR1 SATB1 SCN4A SCO2 SCYL2 SDHD SEC31A SERPINC1 SERPINE1 SFTPB SIK1 SLC17A5 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC33A1 SLC35D1 SLC9A6 SMARCD2 SMN1 SMO SMOC1 SMPD4 SNAP29 SNRPB STAT2 STT3B STX1A STX3 SUCLG1 SUOX SURF1 TARS2 TBL2 TFAM TGFBR2 THPO TIMMDC1 TK2 TMEM260 TMEM270 TMEM70 TNFRSF11A TNNI3 TOR1A TPI1 TPP2 TRIP11 TRMU TRNN TRNS1 TSEN2 TSEN54 TSFM TSPYL1 TTC26 TTC7A TUFM TYMP UBR1 VIPAS39 VPS33A VPS33B VPS35L VPS37D VPS4A VPS50 WASHC5 WDR11 WRN WT1 XIST ZIC3 ZMPSTE24 ZNFX1

Diseases (365) :OMIM:614096 OMIM:613163 OMIM:610921 OMIM:601847 OMIM:611126 OMIM:201475 ORPHA:2971 ORPHA:79107 ORPHA:2241 OMIM:618468 OMIM:612158 OMIM:619651 OMIM:619297 OMIM:260600 OMIM:618006 ORPHA:86816 OMIM:608540 OMIM:619036 OMIM:608104 OMIM:241500 OMIM:605899 ORPHA:2028 OMIM:609313 ORPHA:100006 ORPHA:452 ORPHA:99803 OMIM:615485 OMIM:618810 OMIM:619422 OMIM:619605 OMIM:619602 OMIM:618683 OMIM:300972 OMIM:309400 OMIM:604273 ORPHA:847 ORPHA:904 ORPHA:53693 OMIM:124000 ORPHA:169189 ORPHA:2098 OMIM:614299 OMIM:614498 OMIM:619985 OMIM:619423 OMIM:618773 ORPHA:7 OMIM:615607 ORPHA:1308 OMIM:619302 OMIM:616342 ORPHA:95496 OMIM:243605 OMIM:236500 ORPHA:1545 OMIM:619517 ORPHA:1947 OMIM:612540 OMIM:618266 OMIM:614576 OMIM:228520 OMIM:200610 OMIM:151210 OMIM:619046 OMIM:619355 OMIM:619064 OMIM:619059 OMIM:608836 OMIM:615789 OMIM:610682 ORPHA:100008 OMIM:610127 OMIM:300067 OMIM:270400 OMIM:246900 ORPHA:96334 OMIM:277300 OMIM:614388 OMIM:615368 OMIM:610768 OMIM:620070 OMIM:615042 OMIM:605676 OMIM:609638 OMIM:619847 OMIM:617405 OMIM:616277 OMIM:600501 OMIM:617941 ORPHA:1270 OMIM:187300 ORPHA:144 ORPHA:1493 OMIM:610758 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:610965 OMIM:214150 OMIM:133540 OMIM:268300 OMIM:231680 OMIM:602473 OMIM:619076 OMIM:616081 OMIM:617425 OMIM:613759 OMIM:602361 OMIM:259775 OMIM:300514 OMIM:314390 OMIM:614946 ORPHA:464370 OMIM:619164 OMIM:202400 ORPHA:98880 OMIM:100800 OMIM:187600 OMIM:187601 OMIM:613153 ORPHA:2308 OMIM:309350 OMIM:304120 OMIM:108720 OMIM:112310 OMIM:265380 ORPHA:2052 OMIM:612938 OMIM:618822 OMIM:619124 OMIM:618839 ORPHA:85212 OMIM:608013 OMIM:200700 OMIM:203450 OMIM:230500 OMIM:611890 OMIM:253310 OMIM:146510 OMIM:610015 OMIM:252500 ORPHA:373 OMIM:615501 OMIM:618922 ORPHA:2133 ORPHA:163966 OMIM:268800 OMIM:246450 ORPHA:2438 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:617248 OMIM:236680 ORPHA:93473 OMIM:619751 OMIM:617925 OMIM:619817 OMIM:226730 OMIM:616647 ORPHA:71493 OMIM:613730 OMIM:619492 OMIM:619147 OMIM:619433 OMIM:615348 OMIM:619599 OMIM:619784 OMIM:226700 OMIM:609049 OMIM:619786 OMIM:617514 OMIM:215140 OMIM:617468 OMIM:601559 OMIM:278000 OMIM:616299 OMIM:617668 ORPHA:157973 OMIM:619362 OMIM:619897 OMIM:614037 OMIM:615838 OMIM:619004 OMIM:619005 ORPHA:85284 OMIM:620014 OMIM:617086 OMIM:616486 OMIM:245150 OMIM:252160 OMIM:609180 OMIM:602579 OMIM:618567 OMIM:614582 OMIM:615395 OMIM:610498 OMIM:611719 OMIM:617664 OMIM:619127 OMIM:208150 OMIM:613251 OMIM:255160 OMIM:618414 OMIM:619424 OMIM:251850 OMIM:616034 OMIM:618845 OMIM:618321 OMIM:617186 OMIM:618235 OMIM:618240 OMIM:618237 OMIM:619003 OMIM:301021 OMIM:252010 OMIM:618225 OMIM:619334 OMIM:615415 OMIM:602535 OMIM:619386 OMIM:605711 OMIM:618278 OMIM:231090 OMIM:607625 OMIM:208540 OMIM:617049 OMIM:249400 OMIM:619695 OMIM:308050 OMIM:619340 ORPHA:1507 OMIM:618042 ORPHA:534 OMIM:203740 OMIM:224690 OMIM:259720 OMIM:619859 OMIM:619055 OMIM:214100 ORPHA:912 OMIM:614876 OMIM:614867 OMIM:614872 OMIM:614882 OMIM:214110 OMIM:614862 OMIM:256520 OMIM:300868 OMIM:618580 OMIM:616809 OMIM:611369 OMIM:119800 OMIM:263200 OMIM:618961 OMIM:612138 OMIM:613877 ORPHA:570 OMIM:212065 OMIM:603041 OMIM:618528 OMIM:607694 OMIM:613150 ORPHA:95699 OMIM:618189 OMIM:620024 OMIM:619301 ORPHA:93946 OMIM:309500 OMIM:301835 OMIM:300661 OMIM:611721 ORPHA:139406 OMIM:611722 OMIM:610992 OMIM:256040 OMIM:609069 OMIM:215045 OMIM:619924 OMIM:618835 OMIM:607624 OMIM:613390 OMIM:611523 OMIM:274000 OMIM:619176 ORPHA:71275 OMIM:618641 OMIM:614922 OMIM:610333 OMIM:610329 OMIM:210710 OMIM:619371 ORPHA:192 OMIM:619229 ORPHA:682 OMIM:604377 OMIM:618766 OMIM:619167 OMIM:618651 ORPHA:82 ORPHA:465 OMIM:265120 OMIM:616341 OMIM:269920 ORPHA:99742 OMIM:609304 OMIM:612289 OMIM:617184 OMIM:619303 OMIM:600972 OMIM:256050 OMIM:614482 OMIM:269250 ORPHA:85278 OMIM:617475 OMIM:253300 OMIM:241800 ORPHA:1106 OMIM:618622 OMIM:609528 ORPHA:1393 OMIM:618886 OMIM:615597 OMIM:619446 OMIM:245400 OMIM:272300 OMIM:220110 OMIM:615918 OMIM:617156 OMIM:618251 OMIM:609560 OMIM:617478 OMIM:614052 ORPHA:1194 OMIM:612301 OMIM:613286 OMIM:618947 OMIM:615512 OMIM:619220 OMIM:200600 ORPHA:166272 OMIM:184260 OMIM:613070 OMIM:612389 OMIM:277470 OMIM:225753 OMIM:610505 ORPHA:168593 OMIM:619534 OMIM:243150 OMIM:610678 ORPHA:2315 OMIM:243800 OMIM:613404 OMIM:617303 OMIM:208085 OMIM:619135 OMIM:619273 OMIM:619685 ORPHA:902 OMIM:608978 OMIM:300087 OMIM:608612 OMIM:275210 OMIM:619644

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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