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:
Abnormal macular morphology (HP:0001103)

Grandparent Node:
Aplasia/Hypoplasia of the retina (HP:0008061)

Parent Node:
Aplasia/Hypoplasia of the macula (HP:0008059)

..Starting node
..Macular hypoplasia (HP:0001104)

Term ID:

1104

Name:

Macular hypoplasia

Synonym:

Definition:

Underdevelopment of the macula lutea.

Comments:

Reference:

HP:0001104

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the fovea (HP:0008060)

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:0001104	HP:0001104	Macular hypoplasia	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0001104	HP:0001104	Macular hypoplasia	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0001104	HP:0001104	Macular hypoplasia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0001104	HP:0001104	Macular hypoplasia	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001104	HP:0001104	Macular hypoplasia	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0001104	HP:0001104	Macular hypoplasia	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0001104	HP:0001104	Macular hypoplasia	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0001104	HP:0001104	Macular hypoplasia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0001104	HP:0001104	Macular hypoplasia	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0001104	HP:0001104	Macular hypoplasia	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	HP:0040283 - Occasional	21
HP:0001104	HP:0001104	Macular hypoplasia	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0001104	HP:0001104	Macular hypoplasia	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0001104	HP:0001104	Macular hypoplasia	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0001104	HP:0001104	Macular hypoplasia	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42

Genes (14) :ATOH7 COL18A1 DPYD EPG5 FZD4 HMX1 HPS6 LAMB2 LYST MAF MPDZ NDP PAX6 SLC45A2

Diseases (12) :ORPHA:91495 OMIM:267750 ORPHA:1675 OMIM:242840 OMIM:612109 OMIM:614075 OMIM:609049 OMIM:214500 OMIM:610202 OMIM:615219 ORPHA:2334 OMIM:606574

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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