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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal meningeal morphology (HP:0010651)

..Starting node
..Abnormal arachnoid mater morphology (HP:0100700)

Term ID:

100700

Name:

Abnormal arachnoid mater morphology

Synonym:

Abnormality of the arachnoid mater; Abnormality of the arachnoidea

Definition:

An abnormality of the Arachnoid mater.

Comments:

Reference:

HP:0100700

Genes and Diseases:

Child Nodes:

........

Arachnoid cyst (HP:0100702)

................... HP:0009745 Spinalarachnoid cyst
................... HP:0012487 Cerebellopontine angle arachnoid cyst
................... HP:0012488 Intraventricular arachnoid cyst
................... HP:0012489 Suprasellar arachnoid cyst

Sister Nodes:

Abnormal dura mater morphology (HP:0010652)

Abnormal pia mater (HP:0100701)

Abnormal spinal meningeal morphology (HP:0010303)

Meningeal calcification (HP:0100250)

Meningocele (HP:0002435)

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:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1		109
HP:0100700	HP:0100700	Abnormal arachnoid mater morphology	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0100700	HP:0034454	Arachnoid granulation	1	CL E G H
HP:0100700	HP:0100702	Arachnoid cyst	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0100700	HP:0100702	Arachnoid cyst	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0100700	HP:0100702	Arachnoid cyst	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0100700	HP:0100702	Arachnoid cyst	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0100700	HP:0100702	Arachnoid cyst	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0100700	HP:0100702	Arachnoid cyst	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0100700	HP:0100702	Arachnoid cyst	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0100700	HP:0100702	Arachnoid cyst	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0100700	HP:0100702	Arachnoid cyst	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100700	HP:0100702	Arachnoid cyst	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0100700	HP:0100702	Arachnoid cyst	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0100700	HP:0100702	Arachnoid cyst	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100700	HP:0100702	Arachnoid cyst	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0100700	HP:0100702	Arachnoid cyst	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0100700	HP:0100702	Arachnoid cyst	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0100700	HP:0100702	Arachnoid cyst	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0100700	HP:0100702	Arachnoid cyst	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0100700	HP:0100702	Arachnoid cyst	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100700	HP:0100702	Arachnoid cyst	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0100700	HP:0100702	Arachnoid cyst	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0100700	HP:0100702	Arachnoid cyst	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional	196
HP:0100700	HP:0100702	Arachnoid cyst	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0100700	HP:0100702	Arachnoid cyst	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0100700	HP:0100702	Arachnoid cyst	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0100700	HP:0100702	Arachnoid cyst	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0100700	HP:0100702	Arachnoid cyst	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0100700	HP:0100702	Arachnoid cyst	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100700	HP:0100702	Arachnoid cyst	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0100700	HP:0100702	Arachnoid cyst	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100700	HP:0100702	Arachnoid cyst	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0100700	HP:0100702	Arachnoid cyst	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0100700	HP:0100702	Arachnoid cyst	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0100700	HP:0100702	Arachnoid cyst	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0100700	HP:0100702	Arachnoid cyst	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0100700	HP:0100702	Arachnoid cyst	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0100700	HP:0100702	Arachnoid cyst	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0100700	HP:0100702	Arachnoid cyst	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100700	HP:0100702	Arachnoid cyst	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100700	HP:0100702	Arachnoid cyst	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0100700	HP:0100702	Arachnoid cyst	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0100700	HP:0100702	Arachnoid cyst	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0100700	HP:0100702	Arachnoid cyst	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0100700	HP:0100702	Arachnoid cyst	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0100700	HP:0100702	Arachnoid cyst	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0100700	HP:0100702	Arachnoid cyst	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100700	HP:0100702	Arachnoid cyst	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0100700	HP:0100702	Arachnoid cyst	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100700	HP:0100702	Arachnoid cyst	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100700	HP:0100702	Arachnoid cyst	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0100700	HP:0100702	Arachnoid cyst	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100700	HP:0100702	Arachnoid cyst	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0100700	HP:0100702	Arachnoid cyst	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0100700	HP:0100702	Arachnoid cyst	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional	109
HP:0100700	HP:0100702	Arachnoid cyst	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0100700	HP:0009745	Spinal arachnoid cyst	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0100700	HP:0012487	Cerebellopontine angle arachnoid cyst	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0100700	HP:0012489	Suprasellar arachnoid cyst	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100700	HP:0012488	Intraventricular arachnoid cyst	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS

Genes (50) :ADAT3 ALG5 ALG9 ARID2 ATP6AP1 BICC1 CPLANE1 DHCR7 DNAJB11 DNAJC19 EBP FGFR1 FGFR2 FOXC2 GANAB GPSM2 HRAS IFT140 KCNC2 KRAS NARS1 NEK1 NOTCH3 NRAS NRCAM NSD1 OFD1 OTUD5 PI4KA PKD1 PKD2 PPP2R5D PUF60 PUS3 RAB3GAP2 RNU4ATAC RTTN SACS SCN1A SCN2A SH2B1 SHANK3 SLC30A9 SON STT3A TMEM231 WAC WLS XPNPEP3 ZNFX1

Diseases (47) :ORPHA:363528 OMIM:615286 ORPHA:730 OMIM:617808 OMIM:300972 OMIM:277170 OMIM:270400 ORPHA:66634 ORPHA:35173 OMIM:613001 OMIM:101200 ORPHA:33001 OMIM:604213 ORPHA:2874 OMIM:619913 OMIM:600268 OMIM:619091 ORPHA:2751 OMIM:130720 OMIM:249400 OMIM:619833 OMIM:117550 OMIM:311200 OMIM:301056 OMIM:619621 ORPHA:457279 ORPHA:508498 OMIM:617051 ORPHA:488627 OMIM:212720 OMIM:210710 ORPHA:468631 ORPHA:98 OMIM:619317 OMIM:618924 ORPHA:261197 ORPHA:48652 OMIM:606232 OMIM:617595 ORPHA:500150 OMIM:617140 OMIM:619714 ORPHA:2752 ORPHA:466950 OMIM:619648 OMIM:613159 OMIM:619644

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

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