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:
Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)

Grandparent Node:
Short thumb (HP:0009778)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the thumb (HP:0009641)

Parent Node:
Short distal phalanx of finger (HP:0009882)

Parent Node:
Short phalanx of the thumb (HP:0009660)

..Starting node
..Short distal phalanx of the thumb (HP:0009650)

Term ID:

9650

Name:

Short distal phalanx of the thumb

Synonym:

Hypoplastic terminal thumb phalanx; Hypoplastic/small distal phalanx of the thumb; Short outermost bone of the thumb; Short terminal thumb phalanx; Short thumb terminal phalanx; Small terminal thumb phalanx

Definition:

Hypoplastic (short) distal phalanx of the thumb.

Comments:

Reference:

HP:0009650

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 1st metacarpal (HP:0010034)

Short proximal phalanx of thumb (HP:0009638)

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:0009650	HP:0009650	Short distal phalanx of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0009650	HP:0009650	Short distal phalanx of the thumb	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124

Genes (10) :BMPR1B FLNA GNAS KNSTRN MAP3K7 PIK3CD PTCH1 PTCH2 SALL4 SUFU

Diseases (6) :OMIM:616849 ORPHA:1826 ORPHA:79445 ORPHA:221139 OMIM:109400 ORPHA:959

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

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