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 thorax morphology (HP:0000765)

Parent Node:
Abnormal rib cage morphology (HP:0001547)

..Starting node
..Deformed rib cage (HP:0000886)

Term ID:

886

Name:

Deformed rib cage

Synonym:

Deformed rib cage

Definition:

Malformation of the rib cage.

Comments:

Reference:

HP:0000886

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal facility in opposing the shoulders (HP:0005259)

Abnormal rib morphology (HP:0000772)

Asymmetry of the thorax (HP:0001555)

Bell-shaped thorax (HP:0001591)

Enlarged thorax (HP:0100625)

Restricted chest movement (HP:0006596)

Thoracic dysplasia (HP:0006644)

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:0000886	HP:0000886	Deformed rib cage	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0000886	HP:0000886	Deformed rib cage	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000886	HP:0000886	Deformed rib cage	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0000886	HP:0000886	Deformed rib cage	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0000886	HP:0000886	Deformed rib cage	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0000886	HP:0000886	Deformed rib cage	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0000886	HP:0000886	Deformed rib cage	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0000886	HP:0000886	Deformed rib cage	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000886	HP:0000886	Deformed rib cage	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0000886	HP:0000886	Deformed rib cage	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (8) :CYP27B1 CYP2R1 DNAJC21 EFL1 SBDS SLC34A3 SRP54 VDR

Diseases (6) :ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:811 OMIM:241530 OMIM:277440

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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