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:
Reduced bone mineral density (HP:0004349)

Parent Node:
Hypophosphatemia (HP:0002148)

Parent Node:
Rickets (HP:0002748)

..Starting node
..Hypophosphatemic rickets (HP:0004912)

Term ID:

4912

Name:

Hypophosphatemic rickets

Synonym:

Definition:

Comments:

Reference:

HP:0004912

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rickets of the lower limbs (HP:0006463)

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:0004912	HP:0004912	Hypophosphatemic rickets	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional	415
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	48
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional	151
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	151
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0004912	HP:0004912	Hypophosphatemic rickets	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1

Genes (20) :ABCC6 CLCN5 CTNS DMP1 EHHADH ENPP1 FAH FGF23 GATM HNF4A HRAS KRAS NAB2 NDUFAF6 NRAS PHEX POLRMT SLC34A1 SLC34A3 STAT6

Diseases (20) :OMIM:614473 ORPHA:51608 OMIM:300554 OMIM:219800 ORPHA:289176 OMIM:241520 ORPHA:3337 OMIM:208000 OMIM:613312 OMIM:276700 OMIM:193100 ORPHA:263455 ORPHA:2874 OMIM:163200 ORPHA:2126 OMIM:618913 OMIM:307800 OMIM:619743 ORPHA:157215 OMIM:241530

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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