Human Phenotype Ontology

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 4th finger phalanx morphology (HP:0009172)

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

Parent Node:
Abnormality of the middle phalanx of the 4th finger (HP:0009283)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408)

..Starting node
..Aplasia/Hypoplasia of the middle phalanx of the 4th finger (HP:0009299)

Term ID:

9299

Name:

Aplasia/Hypoplasia of the middle phalanx of the 4th finger

Synonym:

Absent/small middle ring finger bone; Absent/underdeveloped middle ring finger bone

Definition:

Comments:

Reference:

HP:0009299

Genes and Diseases:

Child Nodes:

........

Absent middle phalanx of 4th finger (HP:0009294)

........

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

Sister Nodes:

Aplasia/Hypoplasia of the distal phalanx of the 4th finger (HP:0009289)

Aplasia/Hypoplasia of the proximal phalanx of the 4th finger (HP:0009300)

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:0009299	HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	52
HP:0009299	HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2	4
HP:0009299	HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0009299	HP:0009294	Absent middle phalanx of 4th finger	1	CL E G H
HP:0009299	HP:0009295	Short middle phalanx of the 4th finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	52
HP:0009299	HP:0009295	Short middle phalanx of the 4th finger	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2	4
HP:0009299	HP:0009295	Short middle phalanx of the 4th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22

Genes (3) :GDF5 MECOM NOG

Diseases (3) :OMIM:615072 OMIM:616738 OMIM:186500

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