Human Phenotype Ontology

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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:
Abnormality of limbs (HP:0040064)

Parent Node:
Abnormality of the upper limb (HP:0002817)

..Starting node
..Abnormal arm span (HP:0012769)

Term ID:

12769

Name:

Abnormal arm span

Synonym:

Abnormal arm span

Definition:

A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)

Comments:

Reference:

HP:0012769

Genes and Diseases:

Child Nodes:

........

Reduced arm span (HP:0012770)

........

Increased arm span (HP:0012771)

Sister Nodes:

Abnormal forearm morphology (HP:0002973)

Abnormal upper limb bone morphology (HP:0040070)

Abnormal upper limb metaphysis morphology (HP:0009809)

Abnormality of the hand (HP:0001155)

Abnormality of the musculature of the upper limbs (HP:0001446)

Abnormality of the upper arm (HP:0001454)

Abnormality of upper limb epiphysis morphology (HP:0003839)

Abnormality of upper limb joint (HP:0009810)

Amniotic constriction rings of arms (HP:0010483)

Anomaly of the upper limb diaphyses (HP:0009808)

Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Areflexia of upper limbs (HP:0012046)

Bowing of the arm (HP:0006488)

Distal upper limb muscle weakness (HP:0008959)

Duplication of bones involving the upper extremities (HP:0009142)

Edema of the upper limbs (HP:0010742)

Hypertrophy of the upper limb (HP:0010484)

Hyporeflexia of upper limbs (HP:0012391)

Upper limb asymmetry (HP:0100560)

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:0012769	HP:0012769	Abnormal arm span	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0012769	HP:0012769	Abnormal arm span	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0012769	HP:0012769	Abnormal arm span	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0012769	HP:0012769	Abnormal arm span	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0012769	HP:0012769	Abnormal arm span	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0012769	HP:0012769	Abnormal arm span	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0012769	HP:0012769	Abnormal arm span	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0012769	HP:0012769	Abnormal arm span	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0012769	HP:0012769	Abnormal arm span	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0012769	HP:0012769	Abnormal arm span	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0012769	HP:0012769	Abnormal arm span	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0012769	HP:0012771	Increased arm span	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent	1
HP:0012769	HP:0012770	Reduced arm span	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0012769	HP:0012770	Reduced arm span	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0012769	HP:0012770	Reduced arm span	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	137
HP:0012769	HP:0012771	Increased arm span	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0012769	HP:0012771	Increased arm span	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0012769	HP:0012770	Reduced arm span	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0012769	HP:0012771	Increased arm span	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent	544
HP:0012769	HP:0012771	Increased arm span	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent	60
HP:0012769	HP:0012771	Increased arm span	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0012769	HP:0012771	Increased arm span	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46

Genes (11) :APC2 COL9A1 COL9A2 COL9A3 DLG4 FBN1 MAF NSD1 SETD2 TGFB3 TRAPPC2

Diseases (7) :ORPHA:821 ORPHA:166002 OMIM:618793 ORPHA:284979 ORPHA:1272 OMIM:615582 ORPHA:93284

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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