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 phalanges of the 2nd finger (HP:0009541)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Abnormality of the proximal phalanx of the 2nd finger (HP:0009544)

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

..Starting node
..Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)

Term ID:

9580

Name:

Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger

Synonym:

Absent/small innermost index finger bone; Absent/underdeveloped innermost index finger bone

Definition:

Comments:

Reference:

HP:0009580

Genes and Diseases:

Child Nodes:

........

Aplasia of the proximal phalanx of the 2nd finger (HP:0009596)

........

Short proximal phalanx of the 2nd finger (HP:0009597)

Sister Nodes:

Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557)

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

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:0009580	HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009580	HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0009580	HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009580	HP:0009597	Short proximal phalanx of the 2nd finger	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional

Genes (2) :BMPR1B KIF15

Diseases (2) :OMIM:609441 ORPHA:261323

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