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 the fontanelles or cranial sutures (HP:0000235)

Parent Node:
Abnormality of fontanelles (HP:0011328)

..Starting node
..Large fontanelles (HP:0000239)

Term ID:

239

Name:

Large fontanelles

Synonym:

Enlarged fontanelles; Large bregma sutures; Large fontanel; Large fontanelle; Large fontanels; Large, late-closing fontanelle; Persistent wide fontanel; Wide bregma sutures; Wide fontanelles

Definition:

In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.

Comments:

Reference:

HP:0000239

Genes and Diseases:

Child Nodes:

........

Wide anterior fontanel (HP:0000260)

........

Large posterior fontanelle (HP:0004491)

........

Widely patent fontanelles and sutures (HP:0004492)

Sister Nodes:

Abnormality of the anterior fontanelle (HP:0000236)

Extra fontanelles (HP:0012367)

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:0000239	HP:0000239	Large fontanelles	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0000239	HP:0000239	Large fontanelles	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0000239	HP:0000239	Large fontanelles	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0000239	HP:0000239	Large fontanelles	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0000239	HP:0000239	Large fontanelles	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0000239	HP:0000239	Large fontanelles	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0000239	HP:0000239	Large fontanelles	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0000239	HP:0000239	Large fontanelles	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000239	HP:0000239	Large fontanelles	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0000239	HP:0000239	Large fontanelles	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0000239	HP:0000239	Large fontanelles	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000239	HP:0000239	Large fontanelles	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000239	HP:0000239	Large fontanelles	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0000239	HP:0000239	Large fontanelles	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000239	HP:0000239	Large fontanelles	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0000239	HP:0000239	Large fontanelles	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000239	HP:0000239	Large fontanelles	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000239	HP:0000239	Large fontanelles	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000239	HP:0000239	Large fontanelles	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000239	HP:0000239	Large fontanelles	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000239	HP:0000239	Large fontanelles	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0000239	HP:0000239	Large fontanelles	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000239	HP:0000239	Large fontanelles	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000239	HP:0000239	Large fontanelles	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000239	HP:0000239	Large fontanelles	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000239	HP:0000239	Large fontanelles	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000239	HP:0000239	Large fontanelles	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000239	HP:0000239	Large fontanelles	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000239	HP:0000239	Large fontanelles	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000239	HP:0000239	Large fontanelles	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000239	HP:0000239	Large fontanelles	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000239	HP:0000239	Large fontanelles	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0000239	HP:0000239	Large fontanelles	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0000239	HP:0000239	Large fontanelles	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000239	HP:0000239	Large fontanelles	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0000239	HP:0000239	Large fontanelles	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0000239	HP:0000239	Large fontanelles	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0000239	HP:0000239	Large fontanelles	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0000239	HP:0000239	Large fontanelles	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0000239	HP:0000239	Large fontanelles	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000239	HP:0000239	Large fontanelles	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000239	HP:0000239	Large fontanelles	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0000239	HP:0000239	Large fontanelles	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0000239	HP:0000239	Large fontanelles	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0000239	HP:0000239	Large fontanelles	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	27
HP:0000239	HP:0000239	Large fontanelles	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000239	HP:0000239	Large fontanelles	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000239	HP:0000239	Large fontanelles	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000239	HP:0000239	Large fontanelles	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0000239	HP:0000239	Large fontanelles	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0000239	HP:0000239	Large fontanelles	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000239	HP:0000239	Large fontanelles	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000239	HP:0000239	Large fontanelles	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000239	HP:0000239	Large fontanelles	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0000239	HP:0000239	Large fontanelles	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0000239	HP:0000239	Large fontanelles	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0000239	HP:0000239	Large fontanelles	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000239	HP:0000239	Large fontanelles	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000239	HP:0000239	Large fontanelles	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	114
HP:0000239	HP:0000239	Large fontanelles	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000239	HP:0000239	Large fontanelles	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000239	HP:0000239	Large fontanelles	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000239	HP:0000239	Large fontanelles	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0000239	HP:0000239	Large fontanelles	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0000239	HP:0000239	Large fontanelles	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0000239	HP:0000239	Large fontanelles	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0000239	HP:0000239	Large fontanelles	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000239	HP:0000239	Large fontanelles	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000239	HP:0000239	Large fontanelles	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000239	HP:0000239	Large fontanelles	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	9
HP:0000239	HP:0000239	Large fontanelles	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000239	HP:0000239	Large fontanelles	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0000239	HP:0000239	Large fontanelles	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000239	HP:0000239	Large fontanelles	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0000239	HP:0000239	Large fontanelles	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000239	HP:0000239	Large fontanelles	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000239	HP:0000239	Large fontanelles	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0000239	HP:0000239	Large fontanelles	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0000239	HP:0000239	Large fontanelles	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0000239	HP:0000239	Large fontanelles	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040281 - Very frequent	55
HP:0000239	HP:0000239	Large fontanelles	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0000239	HP:0000239	Large fontanelles	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000239	HP:0000239	Large fontanelles	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000239	HP:0000239	Large fontanelles	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000239	HP:0000239	Large fontanelles	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000239	HP:0000239	Large fontanelles	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0000239	HP:0000239	Large fontanelles	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000239	HP:0000239	Large fontanelles	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000239	HP:0000239	Large fontanelles	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0000239	HP:0000239	Large fontanelles	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000239	HP:0000239	Large fontanelles	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000239	HP:0000239	Large fontanelles	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0000239	HP:0000239	Large fontanelles	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000239	HP:0000239	Large fontanelles	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000239	HP:0000239	Large fontanelles	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0000239	HP:0000239	Large fontanelles	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0000239	HP:0000239	Large fontanelles	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000239	HP:0000239	Large fontanelles	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0000239	HP:0000239	Large fontanelles	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0000239	HP:0000239	Large fontanelles	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000239	HP:0000239	Large fontanelles	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0000239	HP:0000239	Large fontanelles	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000239	HP:0000239	Large fontanelles	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0000239	HP:0000239	Large fontanelles	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000239	HP:0000239	Large fontanelles	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000239	HP:0000239	Large fontanelles	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000239	HP:0000239	Large fontanelles	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0000239	HP:0000239	Large fontanelles	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000239	HP:0000239	Large fontanelles	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000239	HP:0000239	Large fontanelles	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000239	HP:0000239	Large fontanelles	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000239	HP:0000239	Large fontanelles	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000239	HP:0000239	Large fontanelles	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000239	HP:0000239	Large fontanelles	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000239	HP:0000239	Large fontanelles	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000239	HP:0000239	Large fontanelles	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0000239	HP:0000239	Large fontanelles	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0000239	HP:0000239	Large fontanelles	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000239	HP:0000239	Large fontanelles	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent	150
HP:0000239	HP:0000239	Large fontanelles	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000239	HP:0000239	Large fontanelles	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000239	HP:0000239	Large fontanelles	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000239	HP:0000239	Large fontanelles	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0000239	HP:0000239	Large fontanelles	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000239	HP:0000239	Large fontanelles	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	51
HP:0000239	HP:0000239	Large fontanelles	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	90
HP:0000239	HP:0000239	Large fontanelles	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0000239	HP:0000239	Large fontanelles	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0000239	HP:0000239	Large fontanelles	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000239	HP:0000239	Large fontanelles	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000239	HP:0000239	Large fontanelles	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0000239	HP:0000239	Large fontanelles	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000239	HP:0000239	Large fontanelles	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	63
HP:0000239	HP:0000239	Large fontanelles	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0000239	HP:0000239	Large fontanelles	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0000239	HP:0000239	Large fontanelles	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	63
HP:0000239	HP:0000239	Large fontanelles	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000239	HP:0000239	Large fontanelles	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000239	HP:0000239	Large fontanelles	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000239	HP:0000239	Large fontanelles	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000239	HP:0000239	Large fontanelles	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000239	HP:0000239	Large fontanelles	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000239	HP:0000239	Large fontanelles	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000239	HP:0000239	Large fontanelles	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000239	HP:0000239	Large fontanelles	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000239	HP:0000239	Large fontanelles	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000239	HP:0000239	Large fontanelles	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000239	HP:0000239	Large fontanelles	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000239	HP:0000239	Large fontanelles	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000239	HP:0000239	Large fontanelles	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0000239	HP:0000239	Large fontanelles	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000239	HP:0000239	Large fontanelles	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000239	HP:0000239	Large fontanelles	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000239	HP:0000239	Large fontanelles	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000239	HP:0000239	Large fontanelles	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0000239	HP:0000239	Large fontanelles	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000239	HP:0000239	Large fontanelles	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000239	HP:0000239	Large fontanelles	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000239	HP:0000239	Large fontanelles	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000239	HP:0000239	Large fontanelles	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000239	HP:0000239	Large fontanelles	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000239	HP:0000239	Large fontanelles	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000239	HP:0000239	Large fontanelles	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000239	HP:0000239	Large fontanelles	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000239	HP:0000239	Large fontanelles	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000239	HP:0000239	Large fontanelles	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0000239	HP:0000239	Large fontanelles	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000239	HP:0000239	Large fontanelles	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000239	HP:0000239	Large fontanelles	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000239	HP:0000239	Large fontanelles	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000239	HP:0000239	Large fontanelles	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000239	HP:0000239	Large fontanelles	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000239	HP:0000239	Large fontanelles	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000239	HP:0000239	Large fontanelles	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000239	HP:0000239	Large fontanelles	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000239	HP:0000239	Large fontanelles	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000239	HP:0000239	Large fontanelles	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0000239	HP:0000239	Large fontanelles	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0000239	HP:0000239	Large fontanelles	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0000239	HP:0000239	Large fontanelles	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0000239	HP:0000239	Large fontanelles	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000239	HP:0000239	Large fontanelles	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000239	HP:0000239	Large fontanelles	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000239	HP:0000239	Large fontanelles	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000239	HP:0000239	Large fontanelles	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000239	HP:0000239	Large fontanelles	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0000239	HP:0000239	Large fontanelles	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0000239	HP:0000239	Large fontanelles	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0000239	HP:0000239	Large fontanelles	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000239	HP:0000239	Large fontanelles	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000239	HP:0000239	Large fontanelles	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000239	HP:0000239	Large fontanelles	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0000239	HP:0000239	Large fontanelles	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000239	HP:0000239	Large fontanelles	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0000239	HP:0000239	Large fontanelles	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000239	HP:0000239	Large fontanelles	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000239	HP:0000239	Large fontanelles	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000239	HP:0000239	Large fontanelles	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0000239	HP:0000239	Large fontanelles	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0000239	HP:0000239	Large fontanelles	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000239	HP:0000239	Large fontanelles	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000239	HP:0000239	Large fontanelles	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000239	HP:0000239	Large fontanelles	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	274
HP:0000239	HP:0000239	Large fontanelles	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	274
HP:0000239	HP:0000239	Large fontanelles	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0000239	HP:0000239	Large fontanelles	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0000239	HP:0000239	Large fontanelles	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000239	HP:0000239	Large fontanelles	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000239	HP:0000239	Large fontanelles	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000239	HP:0000239	Large fontanelles	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000239	HP:0000239	Large fontanelles	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0000239	HP:0000239	Large fontanelles	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0000239	HP:0000239	Large fontanelles	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0000239	HP:0000239	Large fontanelles	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0000239	HP:0000239	Large fontanelles	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	97
HP:0000239	HP:0000239	Large fontanelles	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0000239	HP:0000239	Large fontanelles	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	97
HP:0000239	HP:0000239	Large fontanelles	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000239	HP:0000239	Large fontanelles	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000239	HP:0000239	Large fontanelles	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0000239	HP:0000239	Large fontanelles	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000239	HP:0000239	Large fontanelles	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000239	HP:0000239	Large fontanelles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0000239	HP:0000239	Large fontanelles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000239	HP:0000239	Large fontanelles	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000239	HP:0000239	Large fontanelles	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0000239	HP:0000260	Wide anterior fontanel	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0000239	HP:0000260	Wide anterior fontanel	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000239	HP:0000260	Wide anterior fontanel	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0000239	HP:0000260	Wide anterior fontanel	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000239	HP:0000260	Wide anterior fontanel	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000239	HP:0000260	Wide anterior fontanel	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000239	HP:0000260	Wide anterior fontanel	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000239	HP:0000260	Wide anterior fontanel	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000239	HP:0000260	Wide anterior fontanel	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000239	HP:0000260	Wide anterior fontanel	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000239	HP:0000260	Wide anterior fontanel	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000239	HP:0000260	Wide anterior fontanel	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000239	HP:0000260	Wide anterior fontanel	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000239	HP:0000260	Wide anterior fontanel	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000239	HP:0000260	Wide anterior fontanel	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000239	HP:0000260	Wide anterior fontanel	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000239	HP:0000260	Wide anterior fontanel	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000239	HP:0000260	Wide anterior fontanel	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000239	HP:0000260	Wide anterior fontanel	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000239	HP:0000260	Wide anterior fontanel	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0000239	HP:0000260	Wide anterior fontanel	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000239	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:0000239	HP:0004491	Large posterior fontanelle	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0000239	HP:0004491	Large posterior fontanelle	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0000239	HP:0000260	Wide anterior fontanel	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000239	HP:0000260	Wide anterior fontanel	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000239	HP:0000260	Wide anterior fontanel	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000239	HP:0000260	Wide anterior fontanel	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000239	HP:0000260	Wide anterior fontanel	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000239	HP:0000260	Wide anterior fontanel	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000239	HP:0000260	Wide anterior fontanel	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000239	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:0000239	HP:0000260	Wide anterior fontanel	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0000239	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:0000239	HP:0000260	Wide anterior fontanel	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0000239	HP:0000260	Wide anterior fontanel	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000239	HP:0000260	Wide anterior fontanel	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000239	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:0000239	HP:0004491	Large posterior fontanelle	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000239	HP:0004491	Large posterior fontanelle	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0000239	HP:0000260	Wide anterior fontanel	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000239	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:0000239	HP:0004491	Large posterior fontanelle	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000239	HP:0000260	Wide anterior fontanel	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000239	HP:0004491	Large posterior fontanelle	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0000239	HP:0000260	Wide anterior fontanel	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000239	HP:0000260	Wide anterior fontanel	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000239	HP:0000260	Wide anterior fontanel	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000239	HP:0004491	Large posterior fontanelle	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0000239	HP:0004491	Large posterior fontanelle	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0000239	HP:0000260	Wide anterior fontanel	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000239	HP:0000260	Wide anterior fontanel	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000239	HP:0000260	Wide anterior fontanel	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000239	HP:0000260	Wide anterior fontanel	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000239	HP:0000260	Wide anterior fontanel	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000239	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:0000239	HP:0000260	Wide anterior fontanel	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000239	HP:0000260	Wide anterior fontanel	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000239	HP:0000260	Wide anterior fontanel	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000239	HP:0000260	Wide anterior fontanel	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000239	HP:0000260	Wide anterior fontanel	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000239	HP:0004491	Large posterior fontanelle	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000239	HP:0000260	Wide anterior fontanel	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000239	HP:0000260	Wide anterior fontanel	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000239	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:0000239	HP:0000260	Wide anterior fontanel	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000239	HP:0000260	Wide anterior fontanel	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000239	HP:0004491	Large posterior fontanelle	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	169
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	75
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	4
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	65
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	66
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	46
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	59
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	62
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	82
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	106
HP:0000239	HP:0004491	Large posterior fontanelle	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	47
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	99
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	98
HP:0000239	HP:0000260	Wide anterior fontanel	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000239	HP:0000260	Wide anterior fontanel	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000239	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:0000239	HP:0004492	Widely patent fontanelles and sutures	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000239	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:0000239	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:0000239	HP:0004491	Large posterior fontanelle	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0000239	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:0000239	HP:0004491	Large posterior fontanelle	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0000239	HP:0000260	Wide anterior fontanel	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0000239	HP:0000260	Wide anterior fontanel	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000239	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:0000239	HP:0000260	Wide anterior fontanel	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000239	HP:0000260	Wide anterior fontanel	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000239	HP:0000260	Wide anterior fontanel	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000239	HP:0000260	Wide anterior fontanel	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0000239	HP:0000260	Wide anterior fontanel	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000239	HP:0000260	Wide anterior fontanel	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000239	HP:0000260	Wide anterior fontanel	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000239	HP:0004491	Large posterior fontanelle	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0000239	HP:0000260	Wide anterior fontanel	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000239	HP:0000260	Wide anterior fontanel	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000239	HP:0000260	Wide anterior fontanel	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0000239	HP:0004491	Large posterior fontanelle	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0000239	HP:0004491	Large posterior fontanelle	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0000239	HP:0000260	Wide anterior fontanel	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0000239	HP:0004491	Large posterior fontanelle	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0000239	HP:0004491	Large posterior fontanelle	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0000239	HP:0000260	Wide anterior fontanel	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0000239	HP:0000260	Wide anterior fontanel	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000239	HP:0000260	Wide anterior fontanel	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000239	HP:0004492	Widely patent fontanelles and sutures	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000239	HP:0000260	Wide anterior fontanel	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83

Genes (161) :ACE ACTA1 ACTB ACTG1 ADAMTS2 AGT AGTR1 ALDH18A1 ALG1 ALG8 ALG9 ALPL AMER1 ANTXR1 ARX ASXL3 ATP6V0A2 ATP7A B3GLCT BMPER CAV1 CDC45 CDH11 CDKN1C CHST14 CHUK CLCN3 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP CYP27B1 CYP2R1 DCHS1 DLK1 DSE DUOX2 DUOXA2 DVL1 EBP EP300 ETFA ETFB ETFDH FAM20C FAT4 FGFR2 FGFR3 FIG4 FLNA FOXE1 GJA1 GLI3 GLIS3 GNPAT GPX4 H19-ICR HESX1 HNF1B HOXD13 HPGD HRAS HSD17B4 IFT140 IGF2 INPPL1 INTU IYD KCNQ1 KCNQ1OT1 KIF7 KLF1 KLHL40 KLHL41 LHX1 LHX3 LHX4 LIG4 LMNA LMOD3 LRP2 MAF MASP1 MED12 MEG3 MID1 MPDU1 MSX2 MTOR MTX2 MVK NAA10 NDUFAF3 NEB NEPRO NKX2-1 NKX2-5 NPHP3 NSMCE3 NSUN2 P3H1 PAM16 PAX8 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGA PIGQ POLR3A POR POU1F1 PPP2R5D PROP1 PTDSS1 PYCR1 RBM10 RECQL4 REN ROR2 RTL1 RUNX2 SEC23A SETBP1 SH3PXD2B SHPK SIX2 SKI SLC25A24 SLC26A4 SLC34A3 SLC5A5 SMG9 SOX9 SPTBN1 TALDO1 TG TPO TSHB TSHR TWIST1 USP7 VDR VPS35L WNT5A ZMPSTE24 ZSWIM6

Diseases (156) :OMIM:267430 ORPHA:171430 ORPHA:2995 OMIM:225410 OMIM:219150 OMIM:608540 OMIM:608104 ORPHA:79328 OMIM:263210 OMIM:241500 OMIM:300373 ORPHA:2780 OMIM:230740 OMIM:300215 OMIM:615485 OMIM:219200 OMIM:278250 ORPHA:198 OMIM:261540 OMIM:608022 OMIM:606721 OMIM:617063 OMIM:619736 OMIM:130650 OMIM:601776 ORPHA:2953 OMIM:619339 OMIM:619512 OMIM:618150 ORPHA:2021 OMIM:228520 OMIM:166210 OMIM:259420 OMIM:619064 OMIM:180849 OMIM:610682 OMIM:264700 OMIM:600081 ORPHA:314679 OMIM:601390 ORPHA:96334 ORPHA:95716 OMIM:180700 ORPHA:401973 OMIM:231680 ORPHA:1832 OMIM:259775 OMIM:615546 OMIM:207410 OMIM:101200 ORPHA:87 ORPHA:15 OMIM:616482 ORPHA:1860 OMIM:216340 ORPHA:90652 OMIM:304120 ORPHA:95713 OMIM:257850 ORPHA:36 OMIM:610199 OMIM:222765 OMIM:250220 ORPHA:226307 ORPHA:261265 ORPHA:887 ORPHA:1525 OMIM:259100 OMIM:218040 OMIM:261515 OMIM:266920 ORPHA:2746 OMIM:258480 OMIM:617925 OMIM:200990 OMIM:613673 ORPHA:235 ORPHA:90153 ORPHA:1662 ORPHA:2143 OMIM:222448 ORPHA:1272 OMIM:257920 ORPHA:93932 OMIM:305450 ORPHA:2745 OMIM:300000 OMIM:609180 ORPHA:79323 OMIM:168550 OMIM:616638 OMIM:610377 ORPHA:29 OMIM:300855 OMIM:618240 OMIM:619334 OMIM:618853 ORPHA:95712 OMIM:267010 OMIM:617241 OMIM:610915 OMIM:613320 OMIM:218700 ORPHA:95720 ORPHA:44 OMIM:214100 ORPHA:912 OMIM:614883 OMIM:614887 OMIM:614886 OMIM:614866 OMIM:614872 OMIM:214110 OMIM:248700 OMIM:300868 OMIM:618548 OMIM:264090 ORPHA:3455 ORPHA:95699 ORPHA:457279 ORPHA:2658 OMIM:151050 OMIM:612940 OMIM:614438 ORPHA:2886 OMIM:311900 ORPHA:1225 OMIM:113000 OMIM:268310 OMIM:119600 ORPHA:1452 ORPHA:50814 OMIM:607812 OMIM:269150 ORPHA:798 OMIM:249420 ORPHA:440713 ORPHA:488437 OMIM:182212 OMIM:612289 ORPHA:2963 OMIM:241530 OMIM:616920 OMIM:114290 OMIM:619475 OMIM:606003 OMIM:275100 ORPHA:90674 ORPHA:90673 OMIM:617746 OMIM:616863 OMIM:277440 OMIM:619135 ORPHA:90154 OMIM:275210 ORPHA:1827

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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