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 metacarpal morphology (HP:0005916)

Grandparent Node:
Aplasia/hypoplasia involving bones of the hand (HP:0005927)

Parent Node:
Abnormal 5th metacarpal morphology (HP:0010013)

Parent Node:
Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

..Starting node
..Aplasia/Hypoplasia of the 5th metacarpal (HP:0010045)

Term ID:

10045

Name:

Aplasia/Hypoplasia of the 5th metacarpal

Synonym:

Absent/small 5th long bone of hand; Absent/underdeveloped 5th long bone of hand

Definition:

Aplasia or Hypoplasia affecting the 5th metacarpal.

Comments:

Reference:

HP:0010045

Genes and Diseases:

Child Nodes:

........

Aplasia of the 5th metacarpal (HP:0010046)

........

Short 5th metacarpal (HP:0010047)

Sister Nodes:

Aplasia of metacarpal bones (HP:0010048)

Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)

Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

Aplasia/Hypoplasia of the 3rd metacarpal (HP:0010039)

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

Short metacarpal (HP:0010049)

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:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010045	HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010045	HP:0010047	Short 5th metacarpal	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0010045	HP:0010047	Short 5th metacarpal	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0010045	HP:0010047	Short 5th metacarpal	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010045	HP:0010047	Short 5th metacarpal	1	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010045	HP:0010047	Short 5th metacarpal	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010045	HP:0010047	Short 5th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010045	HP:0010047	Short 5th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010045	HP:0010047	Short 5th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0010045	HP:0010047	Short 5th metacarpal	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0010045	HP:0010047	Short 5th metacarpal	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010045	HP:0010047	Short 5th metacarpal	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010045	HP:0010047	Short 5th metacarpal	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A	.	22
HP:0010045	HP:0010047	Short 5th metacarpal	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010045	HP:0010047	Short 5th metacarpal	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0010045	HP:0010047	Short 5th metacarpal	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010045	HP:0010047	Short 5th metacarpal	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010045	HP:0010046	Aplasia of the 5th metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100

Genes (14) :BMP2 COL11A2 FERMT1 FGF16 FLNA GNAS HOXD13 LBR NOG PRKG2 RUNX2 SRCAP SVBP TBX3

Diseases (17) :OMIM:617877 OMIM:215150 ORPHA:2908 OMIM:309630 OMIM:311300 ORPHA:79443 ORPHA:79444 ORPHA:79445 ORPHA:93409 OMIM:169400 OMIM:618019 OMIM:185800 OMIM:619638 OMIM:156510 OMIM:136140 OMIM:618569 OMIM:181450

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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