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:
Brachydactyly (HP:0001156)

Parent Node:
Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)

Parent Node:
Short 5th finger (HP:0009237)

Parent Node:
Short middle phalanx of finger (HP:0005819)

Parent Node:
Type A brachydactyly (HP:0009370)

..Starting node
..Short middle phalanx of the 5th finger (HP:0004220)

Term ID:

4220

Name:

Short middle phalanx of the 5th finger

Synonym:

5th finger middle phalangeal hypoplasia; Brachymesophalangism V; Brachymesophalangy V (finger); Fifth finger mid-phalanx hypoplasia; Hypoplastic fifth finger middle phalanx; Hypoplastic middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the little finger; Short middle bone of the little finger; Short middle bone of the pinkie finger; Short middle bone of the pinky finger; Short middle phalanx of the little finger; Type A3 brachydactyly

Definition:

Hypoplastic/small middle phalanx of the fifth finger.

Comments:

Reference:

HP:0004220

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type A1 brachydactyly (HP:0009371)

Type A2 brachydactyly (HP:0009372)

Type A4 brachydactyly (HP:0031043)

Type A5 brachydactyly (HP:0031044)

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:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040282 - Frequent	104
HP:0004220	HP:0004220	Short middle phalanx of the 5th finger	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (20) :BMP2 BMPR1B DVL1 GATA1 GDF5 GJA1 GNB2 H19-ICR HOXD13 IGF2 MYCN NIN NOG PUF60 RBBP8 ROR2 RUNX2 SRCAP TFAP2B WNT5A

Diseases (23) :ORPHA:93396 OMIM:112600 OMIM:616849 OMIM:180700 OMIM:190685 ORPHA:63442 OMIM:615072 OMIM:113100 OMIM:164200 OMIM:619503 OMIM:180860 ORPHA:93409 OMIM:186000 ORPHA:391641 ORPHA:319675 OMIM:186500 ORPHA:508488 OMIM:251255 OMIM:268310 OMIM:119600 OMIM:156510 OMIM:136140 ORPHA:46627

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