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 1st metacarpal (HP:0010026)

Parent Node:
Short metacarpal (HP:0010049)

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

..Starting node
..Short 1st metacarpal (HP:0010034)

Term ID:

10034

Name:

Short 1st metacarpal

Synonym:

First metacarpal hypoplasia; First metacarpals hypoplastic; Hypoplastic 1st metacarpal; Short first metacarpal; Short first metacarpals; Shortened 1st long bone of hand

Definition:

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

Comments:

Reference:

HP:0010034

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the thumb (HP:0009650)

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:0010034	HP:0010034	Short 1st metacarpal	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0010034	HP:0010034	Short 1st metacarpal	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0010034	HP:0010034	Short 1st metacarpal	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0010034	HP:0010034	Short 1st metacarpal	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0010034	HP:0010034	Short 1st metacarpal	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010034	HP:0010034	Short 1st metacarpal	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0010034	HP:0010034	Short 1st metacarpal	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0010034	HP:0010034	Short 1st metacarpal	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0010034	HP:0010034	Short 1st metacarpal	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0010034	HP:0010034	Short 1st metacarpal	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0010034	HP:0010034	Short 1st metacarpal	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0010034	HP:0010034	Short 1st metacarpal	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010034	HP:0010034	Short 1st metacarpal	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0010034	HP:0010034	Short 1st metacarpal	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0010034	HP:0010034	Short 1st metacarpal	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010034	HP:0010034	Short 1st metacarpal	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0010034	HP:0010034	Short 1st metacarpal	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0010034	HP:0010034	Short 1st metacarpal	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0010034	HP:0010034	Short 1st metacarpal	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0010034	HP:0010034	Short 1st metacarpal	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0010034	HP:0010034	Short 1st metacarpal	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0010034	HP:0010034	Short 1st metacarpal	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0010034	HP:0010034	Short 1st metacarpal	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010034	HP:0010034	Short 1st metacarpal	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0010034	HP:0010034	Short 1st metacarpal	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0010034	HP:0010034	Short 1st metacarpal	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0010034	HP:0010034	Short 1st metacarpal	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010034	HP:0010034	Short 1st metacarpal	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010034	HP:0010034	Short 1st metacarpal	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3

Genes (24) :ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCI FZD2 GDF5 HDAC8 HOXA13 LAMA5 MEG3 NIPBL NOG PCNT RAD21 RTL1 SALL4 SETBP1 SMC1A SMC3 SOX9 SRCAP VPS35L

Diseases (22) :OMIM:135100 OMIM:609441 ORPHA:199 OMIM:251450 ORPHA:96334 OMIM:609053 ORPHA:93328 OMIM:164745 ORPHA:63442 OMIM:113100 OMIM:140000 ORPHA:2438 OMIM:620076 OMIM:611377 OMIM:186570 OMIM:210720 OMIM:147750 OMIM:269150 ORPHA:798 OMIM:114290 OMIM:136140 OMIM:619135

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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