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 involving the metacarpal bones (HP:0005914)

Parent Node:
Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)

Parent Node:
Short metacarpal (HP:0010049)

..Starting node
..Short 4th metacarpal (HP:0010044)

Term ID:

10044

Name:

Short 4th metacarpal

Synonym:

Hypoplastic fourth metacarpal; Short 4th metacarpals; Short fourth metacarpals; Shortened 4th long bone of hand

Definition:

Short fourth metacarpal bone.

Comments:

Reference:

HP:0010044

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cuboidal metacarpal (HP:0006011)

Short 1st metacarpal (HP:0010034)

Short 2nd metacarpal (HP:0010038)

Short 3rd metacarpal (HP:0010041)

Short 5th metacarpal (HP:0010047)

Short metacarpals with rounded proximal ends (HP:0006161)

Shortening of all metacarpals (HP:0005720)

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:0010044	HP:0010044	Short 4th metacarpal	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010044	HP:0010044	Short 4th metacarpal	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010044	HP:0010044	Short 4th metacarpal	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0010044	HP:0010044	Short 4th metacarpal	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010044	HP:0010044	Short 4th metacarpal	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010044	HP:0010044	Short 4th metacarpal	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010044	HP:0010044	Short 4th metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0010044	HP:0010044	Short 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010044	HP:0010044	Short 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010044	HP:0010044	Short 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0010044	HP:0010044	Short 4th metacarpal	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010044	HP:0010044	Short 4th metacarpal	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010044	HP:0010044	Short 4th metacarpal	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010044	HP:0010044	Short 4th metacarpal	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010044	HP:0010044	Short 4th metacarpal	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010044	HP:0010044	Short 4th metacarpal	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0010044	HP:0010044	Short 4th metacarpal	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0010044	HP:0010044	Short 4th metacarpal	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010044	HP:0010044	Short 4th metacarpal	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010044	HP:0010044	Short 4th metacarpal	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0010044	HP:0010044	Short 4th metacarpal	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM

Genes (17) :DCHS1 FAT4 FBXL3 FERMT1 FLNA GLI3 GNAS LBR PIGS PORCN PRKG2 PTCH1 PTCH2 SHOX SRY SUFU SVBP

Diseases (19) :OMIM:601390 OMIM:615546 OMIM:606220 ORPHA:2908 OMIM:311300 OMIM:146510 ORPHA:672 ORPHA:79443 ORPHA:79444 ORPHA:79445 OMIM:169400 OMIM:618019 OMIM:618143 OMIM:305600 OMIM:619638 OMIM:109400 OMIM:127300 ORPHA:1772 OMIM:618569

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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