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:
Abnormality of the middle phalanx of the 2nd finger (HP:0009543)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)

Parent Node:
Aplasia of the 2nd finger (HP:0009535)

Parent Node:
Aplasia of the middle phalanx of the hand (HP:0010239)

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

..Starting node
..Absent middle phalanx of 2nd finger (HP:0009576)

Term ID:

9576

Name:

Absent middle phalanx of 2nd finger

Synonym:

Absent middle bone of index finger; Absent middle phalanx of index finger; Aplasia of the middle phalanx of the 2nd finger

Definition:

Absence of the middle phalanx of the index (2nd) finger.

Comments:

Reference:

HP:0009576

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009576	HP:0009576	Absent middle phalanx of 2nd finger	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	111
HP:0009576	HP:0009576	Absent middle phalanx of 2nd finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	148
HP:0009576	HP:0009576	Absent middle phalanx of 2nd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	34

Genes (3) :FIG4 IFT140 NSDHL

Diseases (3) :OMIM:216340 OMIM:266920 OMIM:308050

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