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:
Abnormal distal phalanx morphology of finger (HP:0009832)

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

Parent Node:
Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)

..Starting node
..Absent distal phalanges (HP:0005807)

Term ID:

5807

Name:

Absent distal phalanges

Synonym:

Absent outermost digital bones

Definition:

Aplasia (absence) of the distal phalanges.

Comments:

Reference:

HP:0005807

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the distal phalanges of the hand (HP:0009881)

Short distal phalanx of finger (HP:0009882)

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:0005807	HP:0005807	Absent distal phalanges	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0005807	HP:0005807	Absent distal phalanges	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0005807	HP:0005807	Absent distal phalanges	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0005807	HP:0005807	Absent distal phalanges	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0005807	HP:0005807	Absent distal phalanges	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0005807	HP:0005807	Absent distal phalanges	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253

Genes (6) :CHUK KCNN3 LBR NOG SLC25A24 TGFBR2

Diseases (6) :OMIM:619339 OMIM:618658 OMIM:215140 OMIM:186500 OMIM:612289 OMIM:610168

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