Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 4th metacarpal morphology (HP:0010012)

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

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

Term ID:

10042

Name:

Aplasia/Hypoplasia of the 4th metacarpal

Synonym:

Absent/small 4th long bone of hand; Absent/underdeveloped 4th long bone of hand

Definition:

Aplasia or Hypoplasia affecting the 4th metacarpal.

Comments:

Reference:

HP:0010042

Genes and Diseases:

Child Nodes:

........

Aplasia of the 4th metacarpal (HP:0010043)

........

Short 4th metacarpal (HP:0010044)

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 5th metacarpal (HP:0010045)

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:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010042	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010042	HP:0010044	Short 4th metacarpal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010042	HP:0010044	Short 4th metacarpal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010042	HP:0010044	Short 4th metacarpal	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0010042	HP:0010044	Short 4th metacarpal	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010042	HP:0010044	Short 4th metacarpal	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010042	HP:0010044	Short 4th metacarpal	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010042	HP:0010044	Short 4th metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0010042	HP:0010043	Aplasia of the 4th metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010042	HP:0010044	Short 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010042	HP:0010044	Short 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010042	HP:0010044	Short 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0010042	HP:0010044	Short 4th metacarpal	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010042	HP:0010044	Short 4th metacarpal	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010042	HP:0010044	Short 4th metacarpal	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010042	HP:0010044	Short 4th metacarpal	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010042	HP:0010044	Short 4th metacarpal	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010042	HP:0010044	Short 4th metacarpal	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0010042	HP:0010044	Short 4th metacarpal	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0010042	HP:0010044	Short 4th metacarpal	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010042	HP:0010044	Short 4th metacarpal	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010042	HP:0010044	Short 4th metacarpal	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0010042	HP:0010044	Short 4th metacarpal	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010042	HP:0010043	Aplasia of the 4th metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100

Genes (18) :DCHS1 FAT4 FBXL3 FERMT1 FLNA GLI3 GNAS LBR PIGS PORCN PRKG2 PTCH1 PTCH2 SHOX SRY SUFU SVBP TBX3

Diseases (21) :OMIM:601390 OMIM:615546 OMIM:606220 ORPHA:2908 OMIM:311300 OMIM:146510 ORPHA:672 ORPHA:93322 ORPHA:79443 ORPHA:79444 ORPHA:79445 OMIM:169400 OMIM:618019 OMIM:618143 OMIM:305600 OMIM:619638 OMIM:109400 OMIM:127300 ORPHA:1772 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen