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 3rd finger phalanx morphology (HP:0009316)

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

Parent Node:
Abnormality of the distal phalanx of the 3rd finger (HP:0009357)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447)

..Starting node
..Aplasia/Hypoplasia of the distal phalanx of the 3rd finger (HP:0009421)

Term ID:

9421

Name:

Aplasia/Hypoplasia of the distal phalanx of the 3rd finger

Synonym:

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

Definition:

Comments:

Reference:

HP:0009421

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of the 3rd finger (HP:0004180)

........

Aplasia of the distal phalanx of the 3rd finger (HP:0009429)

Sister Nodes:

Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437)

Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger (HP:0009457)

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:0009421	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009421	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009421	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009421	HP:0004180	Short distal phalanx of the 3rd finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009421	HP:0004180	Short distal phalanx of the 3rd finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009421	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34

Genes (3) :COL2A1 GNAS NSDHL

Diseases (3) :OMIM:271700 ORPHA:79445 OMIM:308050

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