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:
Abnormality of the fontanelles or cranial sutures (HP:0000235)

Parent Node:
Abnormality of fontanelles (HP:0011328)

..Starting node
..Abnormality of the anterior fontanelle (HP:0000236)

Term ID:

236

Name:

Abnormality of the anterior fontanelle

Synonym:

Abnormality of the forehead soft spot

Definition:

An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.

Comments:

Reference:

HP:0000236

Genes and Diseases:

Child Nodes:

........

Small anterior fontanelle (HP:0000237)

........

Wide anterior fontanel (HP:0000260)

........

Delayed closure of the anterior fontanelle (HP:0001476)

................... HP:0004474 Persistent open anterior fontanelle

........

Midline skin dimples over anterior/posterior fontanelles (HP:0005498)

........

Premature anterior fontanel closure (HP:0008491)

Sister Nodes:

Extra fontanelles (HP:0012367)

Large fontanelles (HP:0000239)

Premature closure of fontanelles (HP:0005458)

Small fontanelle (HP:0005486)

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:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)		66
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)		46
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000236	HP:0000236	Abnormality of the anterior fontanelle	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000236	HP:0000260	Wide anterior fontanel	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000236	HP:0000260	Wide anterior fontanel	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000236	HP:0000260	Wide anterior fontanel	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000236	HP:0000260	Wide anterior fontanel	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000236	HP:0000260	Wide anterior fontanel	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	140
HP:0000236	HP:0000260	Wide anterior fontanel	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000236	HP:0000260	Wide anterior fontanel	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	3
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	2
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000236	HP:0000237	Small anterior fontanelle	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000236	HP:0000260	Wide anterior fontanel	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000236	HP:0000260	Wide anterior fontanel	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000236	HP:0000260	Wide anterior fontanel	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000236	HP:0000260	Wide anterior fontanel	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000236	HP:0000260	Wide anterior fontanel	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000236	HP:0000260	Wide anterior fontanel	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000236	HP:0000260	Wide anterior fontanel	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000236	HP:0000260	Wide anterior fontanel	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000236	HP:0000260	Wide anterior fontanel	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000236	HP:0000260	Wide anterior fontanel	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000236	HP:0000260	Wide anterior fontanel	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000236	HP:0000260	Wide anterior fontanel	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000236	HP:0000260	Wide anterior fontanel	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000236	HP:0000260	Wide anterior fontanel	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000236	HP:0000260	Wide anterior fontanel	1	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:0000236	HP:0008491	Premature anterior fontanel closure	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000236	HP:0000260	Wide anterior fontanel	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000236	HP:0000260	Wide anterior fontanel	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000236	HP:0000260	Wide anterior fontanel	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000236	HP:0000260	Wide anterior fontanel	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000236	HP:0000260	Wide anterior fontanel	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000236	HP:0000260	Wide anterior fontanel	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0000236	HP:0000260	Wide anterior fontanel	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000236	HP:0000260	Wide anterior fontanel	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000236	HP:0000260	Wide anterior fontanel	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0000236	HP:0000260	Wide anterior fontanel	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0000236	HP:0000260	Wide anterior fontanel	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000236	HP:0000260	Wide anterior fontanel	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000236	HP:0000260	Wide anterior fontanel	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000236	HP:0000260	Wide anterior fontanel	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0000236	HP:0008491	Premature anterior fontanel closure	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	4
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000236	HP:0000260	Wide anterior fontanel	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000236	HP:0000237	Small anterior fontanelle	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000236	HP:0000260	Wide anterior fontanel	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	9
HP:0000236	HP:0000260	Wide anterior fontanel	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000236	HP:0000260	Wide anterior fontanel	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000236	HP:0000260	Wide anterior fontanel	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000236	HP:0000260	Wide anterior fontanel	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000236	HP:0000260	Wide anterior fontanel	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000236	HP:0000260	Wide anterior fontanel	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000236	HP:0000260	Wide anterior fontanel	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000236	HP:0000260	Wide anterior fontanel	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000236	HP:0000260	Wide anterior fontanel	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000236	HP:0000260	Wide anterior fontanel	1	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:0000236	HP:0000260	Wide anterior fontanel	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000236	HP:0000260	Wide anterior fontanel	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000236	HP:0000260	Wide anterior fontanel	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000236	HP:0000260	Wide anterior fontanel	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000236	HP:0000237	Small anterior fontanelle	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000236	HP:0000260	Wide anterior fontanel	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000236	HP:0000260	Wide anterior fontanel	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000236	HP:0000260	Wide anterior fontanel	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0000236	HP:0000260	Wide anterior fontanel	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000236	HP:0000260	Wide anterior fontanel	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000236	HP:0000237	Small anterior fontanelle	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000236	HP:0000260	Wide anterior fontanel	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	169
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	75
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	4
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	65
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	66
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	46
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	59
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	62
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	82
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	106
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	47
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	99
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	98
HP:0000236	HP:0000260	Wide anterior fontanel	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000236	HP:0000260	Wide anterior fontanel	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000236	HP:0000260	Wide anterior fontanel	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000236	HP:0000237	Small anterior fontanelle	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000236	HP:0000260	Wide anterior fontanel	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000236	HP:0000260	Wide anterior fontanel	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000236	HP:0000260	Wide anterior fontanel	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0000236	HP:0000237	Small anterior fontanelle	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000236	HP:0000260	Wide anterior fontanel	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0000236	HP:0000260	Wide anterior fontanel	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000236	HP:0000260	Wide anterior fontanel	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000236	HP:0000260	Wide anterior fontanel	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000236	HP:0000260	Wide anterior fontanel	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000236	HP:0000260	Wide anterior fontanel	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000236	HP:0000260	Wide anterior fontanel	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0000236	HP:0000260	Wide anterior fontanel	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000236	HP:0000260	Wide anterior fontanel	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000236	HP:0000260	Wide anterior fontanel	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000236	HP:0000260	Wide anterior fontanel	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000236	HP:0000260	Wide anterior fontanel	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000236	HP:0000260	Wide anterior fontanel	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000236	HP:0000260	Wide anterior fontanel	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0000236	HP:0000260	Wide anterior fontanel	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000236	HP:0005498	Midline skin dimples over anterior/posterior fontanelles	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000236	HP:0000237	Small anterior fontanelle	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000236	HP:0000260	Wide anterior fontanel	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000236	HP:0000260	Wide anterior fontanel	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000236	HP:0001476	Delayed closure of the anterior fontanelle	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000236	HP:0000260	Wide anterior fontanel	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040283 - Occasional	102
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent	39
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000236	HP:0004474	Persistent open anterior fontanelle	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90

Genes (115) :ADAMTS2 ALG9 AMER1 ANKRD11 ANTXR1 ARX ASPA ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GLCT BANF1 CDC45 CDH11 CHUK COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP CTSK DCHS1 DLK1 DPYSL5 DVL1 EBP EP300 ETFA ETFB ETFDH FAM111A FAT4 FGFR2 FGFR3 FLNA GH1 GLI3 GLIS3 GNPTAB GRB10 H19 HDAC4 HRAS HYMAI IFT140 IGF2 INTU KIF7 KLF1 LIG4 LRP2 MASP1 MED12 MEG3 MID1 MMP2 MPDU1 MTOR MYCN NAA10 NDUFAF3 NEPRO NLRP3 NSMCE3 NSUN2 ORC1 P3H1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGQ PLAGL1 POLR3A POR PPP2R5D RNU4ATAC ROR2 RPS6KA3 RTL1 RUNX2 SEC23A SETBP1 SH3PXD2B SIX2 SKI SLC25A24 SMC3 SMG9 SOX9 TALDO1 TBCE TSHB TWIST1 UBR1 VARS1 VPS35L WNT5A ZIC1 ZMPSTE24

Diseases (109) :OMIM:225410 ORPHA:79328 OMIM:263210 OMIM:300373 ORPHA:2332 OMIM:230740 OMIM:300215 OMIM:271900 ORPHA:357074 OMIM:219200 ORPHA:2834 OMIM:278250 OMIM:304150 OMIM:210600 OMIM:261540 OMIM:614008 OMIM:617063 OMIM:619736 OMIM:619339 OMIM:618150 ORPHA:2021 OMIM:228520 OMIM:259420 OMIM:619064 OMIM:180849 OMIM:610682 ORPHA:763 OMIM:265800 OMIM:601390 ORPHA:96334 OMIM:619435 OMIM:180700 ORPHA:401973 OMIM:231680 OMIM:127000 OMIM:615546 OMIM:207410 ORPHA:15 OMIM:616482 ORPHA:1860 OMIM:311300 OMIM:304120 OMIM:262400 ORPHA:36 OMIM:610199 OMIM:252500 ORPHA:96182 ORPHA:231140 OMIM:619797 OMIM:218040 ORPHA:96191 OMIM:266920 OMIM:617925 OMIM:200990 OMIM:613673 ORPHA:235 OMIM:222448 ORPHA:2143 OMIM:257920 OMIM:305450 OMIM:300000 OMIM:259600 OMIM:609180 ORPHA:79323 OMIM:616638 OMIM:164280 OMIM:300855 OMIM:618240 OMIM:618853 ORPHA:1451 OMIM:617241 OMIM:224690 OMIM:610915 ORPHA:44 OMIM:214100 ORPHA:912 OMIM:614883 OMIM:614887 OMIM:614886 OMIM:614872 OMIM:248700 OMIM:618548 OMIM:264090 ORPHA:95699 ORPHA:457279 OMIM:210710 OMIM:113000 OMIM:268310 OMIM:303600 OMIM:119600 OMIM:607812 ORPHA:798 OMIM:249420 ORPHA:488437 OMIM:182212 OMIM:612289 ORPHA:2963 OMIM:610759 OMIM:616920 OMIM:114290 OMIM:606003 OMIM:244460 OMIM:275100 OMIM:617746 OMIM:243800 OMIM:617802 OMIM:619135 OMIM:618736 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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