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 middle phalanx morphology of the hand (HP:0009833)

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

Parent Node:
Aplasia of the fingers (HP:0009380)

Parent Node:
Aplasia of the phalanges of the hand (HP:0009802)

Parent Node:
Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)

..Starting node
..Aplasia of the middle phalanx of the hand (HP:0010239)

Term ID:

10239

Name:

Aplasia of the middle phalanx of the hand

Synonym:

Absent middle bones of hand; Absent middle phalanges; Missing middle phalanges

Definition:

Absence of one or more middle phalanx of a finger.

Comments:

Reference:

HP:0010239

Genes and Diseases:

Child Nodes:

........

Absent middle phalanx of 5th finger (HP:0009162)

........

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

........

Absent middle phalanx of 3rd finger (HP:0009438)

........

Absent middle phalanx of 2nd finger (HP:0009576)

........

Absent proximal phalanx of thumb (HP:0009637)

Sister Nodes:

Short middle phalanx of finger (HP:0005819)

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:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III		68
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type	.	645
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0010239	HP:0010239	Aplasia of the middle phalanx of the hand	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010239	HP:0009294	Absent middle phalanx of 4th finger	1	CL E G H
HP:0010239	HP:0009162	Absent middle phalanx of 5th finger	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0010239	HP:0009637	Absent proximal phalanx of thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0010239	HP:0009637	Absent proximal phalanx of thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0010239	HP:0009637	Absent proximal phalanx of thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0010239	HP:0009576	Absent middle phalanx of 2nd finger	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010239	HP:0009162	Absent middle phalanx of 5th finger	1	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III	.	68
HP:0010239	HP:0009576	Absent middle phalanx of 2nd finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010239	HP:0009162	Absent middle phalanx of 5th finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010239	HP:0009576	Absent middle phalanx of 2nd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010239	HP:0009438	Absent middle phalanx of 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34

Genes (10) :ATP6V1B2 FGF10 FGFR2 FGFR3 FIG4 GJA1 IFT140 LMNA MEGF8 NSDHL

Diseases (8) :OMIM:124480 OMIM:149730 OMIM:216340 OMIM:186100 OMIM:266920 OMIM:610140 OMIM:614976 OMIM:308050

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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