Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of fontanelles (HP:0011328)

Parent Node:
Abnormality of the anterior fontanelle (HP:0000236)

Parent Node:
Large fontanelles (HP:0000239)

..Starting node
..Wide anterior fontanel (HP:0000260)

Term ID:

260

Name:

Wide anterior fontanel

Synonym:

Large anterior fontanel; Large anterior fontanelle; Large anterior fontanels; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull

Definition:

Enlargement of the anterior fontanelle with respect to age-dependent norms.

Comments:

Reference:

HP:0000260

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large posterior fontanelle (HP:0004491)

Widely patent fontanelles and sutures (HP:0004492)

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:0000260	HP:0000260	Wide anterior fontanel	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000260	HP:0000260	Wide anterior fontanel	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000260	HP:0000260	Wide anterior fontanel	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000260	HP:0000260	Wide anterior fontanel	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000260	HP:0000260	Wide anterior fontanel	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000260	HP:0000260	Wide anterior fontanel	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000260	HP:0000260	Wide anterior fontanel	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000260	HP:0000260	Wide anterior fontanel	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000260	HP:0000260	Wide anterior fontanel	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000260	HP:0000260	Wide anterior fontanel	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000260	HP:0000260	Wide anterior fontanel	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000260	HP:0000260	Wide anterior fontanel	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000260	HP:0000260	Wide anterior fontanel	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000260	HP:0000260	Wide anterior fontanel	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000260	HP:0000260	Wide anterior fontanel	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000260	HP:0000260	Wide anterior fontanel	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000260	HP:0000260	Wide anterior fontanel	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000260	HP:0000260	Wide anterior fontanel	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000260	HP:0000260	Wide anterior fontanel	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000260	HP:0000260	Wide anterior fontanel	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000260	HP:0000260	Wide anterior fontanel	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000260	HP:0000260	Wide anterior fontanel	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000260	HP:0000260	Wide anterior fontanel	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000260	HP:0000260	Wide anterior fontanel	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000260	HP:0000260	Wide anterior fontanel	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000260	HP:0000260	Wide anterior fontanel	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000260	HP:0000260	Wide anterior fontanel	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000260	HP:0000260	Wide anterior fontanel	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000260	HP:0000260	Wide anterior fontanel	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000260	HP:0000260	Wide anterior fontanel	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000260	HP:0000260	Wide anterior fontanel	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0000260	HP:0000260	Wide anterior fontanel	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0000260	HP:0000260	Wide anterior fontanel	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0000260	HP:0000260	Wide anterior fontanel	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000260	HP:0000260	Wide anterior fontanel	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000260	HP:0000260	Wide anterior fontanel	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0000260	HP:0000260	Wide anterior fontanel	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000260	HP:0000260	Wide anterior fontanel	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000260	HP:0000260	Wide anterior fontanel	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000260	HP:0000260	Wide anterior fontanel	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000260	HP:0000260	Wide anterior fontanel	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000260	HP:0000260	Wide anterior fontanel	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000260	HP:0000260	Wide anterior fontanel	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000260	HP:0000260	Wide anterior fontanel	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000260	HP:0000260	Wide anterior fontanel	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000260	HP:0000260	Wide anterior fontanel	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000260	HP:0000260	Wide anterior fontanel	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000260	HP:0000260	Wide anterior fontanel	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000260	HP:0000260	Wide anterior fontanel	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000260	HP:0000260	Wide anterior fontanel	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000260	HP:0000260	Wide anterior fontanel	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000260	HP:0000260	Wide anterior fontanel	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000260	HP:0000260	Wide anterior fontanel	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000260	HP:0000260	Wide anterior fontanel	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000260	HP:0000260	Wide anterior fontanel	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000260	HP:0000260	Wide anterior fontanel	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000260	HP:0000260	Wide anterior fontanel	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000260	HP:0000260	Wide anterior fontanel	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	169
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	75
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	4
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	65
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	66
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	46
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	59
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	62
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	82
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	106
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	47
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	99
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	98
HP:0000260	HP:0000260	Wide anterior fontanel	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000260	HP:0000260	Wide anterior fontanel	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000260	HP:0000260	Wide anterior fontanel	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000260	HP:0000260	Wide anterior fontanel	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000260	HP:0000260	Wide anterior fontanel	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000260	HP:0000260	Wide anterior fontanel	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0000260	HP:0000260	Wide anterior fontanel	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0000260	HP:0000260	Wide anterior fontanel	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000260	HP:0000260	Wide anterior fontanel	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000260	HP:0000260	Wide anterior fontanel	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000260	HP:0000260	Wide anterior fontanel	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000260	HP:0000260	Wide anterior fontanel	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000260	HP:0000260	Wide anterior fontanel	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0000260	HP:0000260	Wide anterior fontanel	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000260	HP:0000260	Wide anterior fontanel	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000260	HP:0000260	Wide anterior fontanel	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000260	HP:0000260	Wide anterior fontanel	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000260	HP:0000260	Wide anterior fontanel	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000260	HP:0000260	Wide anterior fontanel	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0000260	HP:0000260	Wide anterior fontanel	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0000260	HP:0000260	Wide anterior fontanel	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000260	HP:0000260	Wide anterior fontanel	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000260	HP:0000260	Wide anterior fontanel	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000260	HP:0000260	Wide anterior fontanel	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83

Genes (83) :ADAMTS2 ALG9 ANTXR1 ARX ATP6V0A2 B3GLCT CDC45 CDH11 CHUK COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP DCHS1 DLK1 DVL1 EBP EP300 ETFA ETFB ETFDH FAT4 FGFR2 FGFR3 FLNA GLI3 GLIS3 HRAS IFT140 INTU KIF7 KLF1 LIG4 LRP2 MASP1 MED12 MEG3 MID1 MPDU1 MTOR NAA10 NDUFAF3 NEPRO NSMCE3 NSUN2 P3H1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGQ POR PPP2R5D ROR2 RTL1 SEC23A SETBP1 SH3PXD2B SIX2 SKI SLC25A24 SMG9 SOX9 TALDO1 TSHB TWIST1 VPS35L WNT5A ZMPSTE24

Diseases (76) :OMIM:225410 ORPHA:79328 OMIM:263210 OMIM:230740 OMIM:300215 OMIM:219200 OMIM:278250 OMIM:261540 OMIM:617063 OMIM:619736 OMIM:619339 OMIM:618150 ORPHA:2021 OMIM:228520 OMIM:259420 OMIM:619064 OMIM:180849 OMIM:610682 OMIM:601390 ORPHA:96334 OMIM:180700 ORPHA:401973 OMIM:231680 OMIM:615546 OMIM:207410 ORPHA:15 OMIM:616482 ORPHA:1860 OMIM:304120 ORPHA:36 OMIM:610199 OMIM:218040 OMIM:266920 OMIM:617925 OMIM:200990 OMIM:613673 ORPHA:235 OMIM:222448 ORPHA:2143 OMIM:257920 OMIM:305450 OMIM:300000 OMIM:609180 ORPHA:79323 OMIM:616638 OMIM:300855 OMIM:618240 OMIM:618853 OMIM:617241 OMIM:610915 ORPHA:44 OMIM:214100 ORPHA:912 OMIM:614883 OMIM:614886 OMIM:614872 OMIM:248700 OMIM:618548 ORPHA:95699 ORPHA:457279 OMIM:113000 OMIM:268310 OMIM:607812 ORPHA:798 OMIM:249420 ORPHA:488437 OMIM:182212 OMIM:612289 ORPHA:2963 OMIM:616920 OMIM:114290 OMIM:606003 OMIM:275100 OMIM:617746 OMIM:619135 OMIM:275210

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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