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:
Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)

Parent Node:
Short 2nd finger (HP:0009536)

Parent Node:
Short middle phalanx of finger (HP:0005819)

..Starting node
..Short middle phalanx of the 2nd finger (HP:0009577)

Term ID:

9577

Name:

Short middle phalanx of the 2nd finger

Synonym:

Brachymesophalangy II (finger); Hypoplastic middle index finger phalanx; Hypoplastic/small middle phalanx of the 2nd finger; Short middle bone of index finger

Definition:

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.

Comments:

Reference:

HP:0009577

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short middle phalanx of the 3rd finger (HP:0009439)

Short middle phalanx of the 4th finger (HP:0009295)

Short middle phalanx of the 5th finger (HP:0004220)

Short proximal phalanx of thumb (HP:0009638)

Shortening of all middle phalanges of the fingers (HP:0006110)

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:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0009577	HP:0009577	Short middle phalanx of the 2nd finger	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138

Genes (6) :GDF5 HOXD13 INTU MYCN RUNX2 SRCAP

Diseases (8) :OMIM:615072 OMIM:113100 ORPHA:93409 OMIM:617926 ORPHA:391641 OMIM:119600 OMIM:156510 OMIM:136140

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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