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:
Abnormality of the phalanges of the 2nd finger (HP:0009541)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Abnormality of the middle phalanx of the 2nd finger (HP:0009543)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)

..Starting node
..Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)

Term ID:

9568

Name:

Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

Synonym:

Absent/hypoplastic middle phalanx of 2nd finger; Absent/small middle index finger bone; Absent/underdeveloped middle index finger bone; Hypoplastic/aplastic middle phalanx of index finger

Definition:

Comments:

Reference:

HP:0009568

Genes and Diseases:

Child Nodes:

........

Absent middle phalanx of 2nd finger (HP:0009576)

........

Short middle phalanx of the 2nd finger (HP:0009577)

Sister Nodes:

Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557)

Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)

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:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0009568	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009568	HP:0009576	Absent middle phalanx of 2nd finger	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0009568	HP:0009576	Absent middle phalanx of 2nd finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0009568	HP:0009576	Absent middle phalanx of 2nd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0009568	HP:0009577	Short middle phalanx of the 2nd finger	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138

Genes (12) :BHLHA9 BMP2 BMPR1B FIG4 GDF5 HOXD13 IFT140 INTU MYCN NSDHL RUNX2 SRCAP

Diseases (15) :OMIM:609432 ORPHA:93396 OMIM:112600 OMIM:616849 OMIM:216340 OMIM:615072 OMIM:113100 ORPHA:93409 OMIM:266920 OMIM:617926 ORPHA:391641 OMIM:308050 OMIM:119600 OMIM:156510 OMIM:136140

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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