Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal cerebral morphology (HP:0002060)

Parent Node:
Abnormal septum pellucidum morphology (HP:0007375)

..Starting node
..Absent septum pellucidum (HP:0001331)

Term ID:

1331

Name:

Absent septum pellucidum

Synonym:

Absence of septum pellucidum; Absence of the septum pellucidum; Agenesis of the septum pellucidum; Missing septum pellucidum

Definition:

Absence of the septum pellucidum.

Comments:

Reference:

HP:0001331

Genes and Diseases:

Child Nodes:

........

Septo-optic dysplasia (HP:0100842)

Sister Nodes:

Cavum septum pellucidum (HP:0002389)

Partial absence of the septum pellucidum (HP:0030283)

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:0001331	HP:0001331	Absent septum pellucidum	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0001331	HP:0001331	Absent septum pellucidum	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0001331	HP:0001331	Absent septum pellucidum	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0001331	HP:0001331	Absent septum pellucidum	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0001331	HP:0001331	Absent septum pellucidum	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001331	HP:0001331	Absent septum pellucidum	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0001331	HP:0001331	Absent septum pellucidum	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001331	HP:0001331	Absent septum pellucidum	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001331	HP:0001331	Absent septum pellucidum	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0001331	HP:0001331	Absent septum pellucidum	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001331	HP:0001331	Absent septum pellucidum	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001331	HP:0001331	Absent septum pellucidum	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0001331	HP:0001331	Absent septum pellucidum	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001331	HP:0001331	Absent septum pellucidum	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001331	HP:0001331	Absent septum pellucidum	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0001331	HP:0001331	Absent septum pellucidum	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001331	HP:0001331	Absent septum pellucidum	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0001331	HP:0001331	Absent septum pellucidum	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0001331	HP:0001331	Absent septum pellucidum	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001331	HP:0001331	Absent septum pellucidum	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0001331	HP:0001331	Absent septum pellucidum	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001331	HP:0001331	Absent septum pellucidum	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001331	HP:0001331	Absent septum pellucidum	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0001331	HP:0001331	Absent septum pellucidum	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0001331	HP:0001331	Absent septum pellucidum	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001331	HP:0001331	Absent septum pellucidum	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0001331	HP:0001331	Absent septum pellucidum	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001331	HP:0001331	Absent septum pellucidum	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0001331	HP:0001331	Absent septum pellucidum	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0001331	HP:0001331	Absent septum pellucidum	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0001331	HP:0001331	Absent septum pellucidum	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0001331	HP:0001331	Absent septum pellucidum	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0001331	HP:0001331	Absent septum pellucidum	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0001331	HP:0001331	Absent septum pellucidum	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001331	HP:0001331	Absent septum pellucidum	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0001331	HP:0001331	Absent septum pellucidum	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0001331	HP:0001331	Absent septum pellucidum	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0001331	HP:0001331	Absent septum pellucidum	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0001331	HP:0001331	Absent septum pellucidum	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	31
HP:0001331	HP:0001331	Absent septum pellucidum	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0001331	HP:0001331	Absent septum pellucidum	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0001331	HP:0001331	Absent septum pellucidum	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	167
HP:0001331	HP:0001331	Absent septum pellucidum	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0001331	HP:0001331	Absent septum pellucidum	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0001331	HP:0001331	Absent septum pellucidum	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0001331	HP:0001331	Absent septum pellucidum	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional	134
HP:0001331	HP:0001331	Absent septum pellucidum	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0001331	HP:0001331	Absent septum pellucidum	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001331	HP:0001331	Absent septum pellucidum	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0001331	HP:0001331	Absent septum pellucidum	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0001331	HP:0001331	Absent septum pellucidum	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0001331	HP:0001331	Absent septum pellucidum	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001331	HP:0001331	Absent septum pellucidum	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0001331	HP:0001331	Absent septum pellucidum	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001331	HP:0001331	Absent septum pellucidum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001331	HP:0001331	Absent septum pellucidum	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0001331	HP:0001331	Absent septum pellucidum	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0001331	HP:0001331	Absent septum pellucidum	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0001331	HP:0001331	Absent septum pellucidum	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0001331	HP:0001331	Absent septum pellucidum	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0001331	HP:0001331	Absent septum pellucidum	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001331	HP:0001331	Absent septum pellucidum	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0001331	HP:0001331	Absent septum pellucidum	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0001331	HP:0001331	Absent septum pellucidum	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0001331	HP:0001331	Absent septum pellucidum	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0001331	HP:0001331	Absent septum pellucidum	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0001331	HP:0001331	Absent septum pellucidum	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0001331	HP:0001331	Absent septum pellucidum	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001331	HP:0001331	Absent septum pellucidum	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0001331	HP:0001331	Absent septum pellucidum	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0001331	HP:0001331	Absent septum pellucidum	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0001331	HP:0001331	Absent septum pellucidum	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0001331	HP:0001331	Absent septum pellucidum	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0001331	HP:0001331	Absent septum pellucidum	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0001331	HP:0001331	Absent septum pellucidum	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001331	HP:0001331	Absent septum pellucidum	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0001331	HP:0001331	Absent septum pellucidum	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0001331	HP:0001331	Absent septum pellucidum	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0001331	HP:0001331	Absent septum pellucidum	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001331	HP:0001331	Absent septum pellucidum	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0001331	HP:0001331	Absent septum pellucidum	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0001331	HP:0100842	Septo-optic dysplasia	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0001331	HP:0100842	Septo-optic dysplasia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001331	HP:0100842	Septo-optic dysplasia	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0001331	HP:0100842	Septo-optic dysplasia	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0001331	HP:0100842	Septo-optic dysplasia	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0001331	HP:0100842	Septo-optic dysplasia	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0001331	HP:0100842	Septo-optic dysplasia	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0001331	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0001331	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0001331	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0001331	HP:0100842	Septo-optic dysplasia	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0001331	HP:0100842	Septo-optic dysplasia	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0001331	HP:0100842	Septo-optic dysplasia	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0001331	HP:0100842	Septo-optic dysplasia	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0001331	HP:0100842	Septo-optic dysplasia	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0001331	HP:0100842	Septo-optic dysplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0001331	HP:0100842	Septo-optic dysplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0001331	HP:0100842	Septo-optic dysplasia	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0001331	HP:0100842	Septo-optic dysplasia	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0001331	HP:0100842	Septo-optic dysplasia	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0001331	HP:0100842	Septo-optic dysplasia	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0001331	HP:0100842	Septo-optic dysplasia	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0001331	HP:0100842	Septo-optic dysplasia	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001331	HP:0100842	Septo-optic dysplasia	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0001331	HP:0100842	Septo-optic dysplasia	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12

Genes (66) :ARNT2 B3GALNT2 B4GAT1 CDC42BPB CDON CILK1 COL18A1 COL4A1 COX7B CPLX1 CRPPA CSGALNACT1 CSPP1 CTBP1 DAG1 DHCR24 DYNC1I2 EHMT1 EZH2 FANCI FGFR1 FGFR2 FGFRL1 FKRP FKTN FOXA2 GLI2 GPR161 HCCS HESX1 HYLS1 KIAA0586 KIF7 KRAS L1CAM LARGE1 LETM1 LHX4 MBTPS2 MUSK NDUFB11 NFIX NSD2 OTX2 PIEZO2 PIGA PLCH1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPP1R12A PROKR2 PROP1 PTDSS1 ROBO1 RSPO2 RXYLT1 SOX2 SOX3 SSR4 STAG2 WDR11 WNT3

Diseases (38) :ORPHA:3157 ORPHA:899 OMIM:615287 OMIM:619841 ORPHA:95496 OMIM:612651 OMIM:267750 ORPHA:2556 OMIM:309801 OMIM:194190 OMIM:618870 ORPHA:397715 ORPHA:35107 OMIM:618492 ORPHA:96147 OMIM:277590 OMIM:609053 ORPHA:2396 OMIM:101200 ORPHA:87 ORPHA:95494 OMIM:182230 ORPHA:2189 OMIM:236680 ORPHA:3339 OMIM:307000 ORPHA:2182 ORPHA:2273 OMIM:208150 OMIM:602535 ORPHA:2461 OMIM:300868 OMIM:619895 OMIM:618820 ORPHA:2658 ORPHA:3301 ORPHA:370927 OMIM:301043

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen