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 musculature of the limbs (HP:0009127)

Grandparent Node:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

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

Parent Node:
Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

..Starting node
..Aplasia/Hypoplasia involving the musculature of the upper limbs (HP:0001467)

Term ID:

1467

Name:

Aplasia/Hypoplasia involving the musculature of the upper limbs

Synonym:

Absent/small upper limb muscles; Absent/underdeveloped upper limb muscles

Definition:

Absence or underdevelopment of the musculature of the upper limbs.

Comments:

Reference:

HP:0001467

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

................... HP:0008952 Shoulder muscle hypoplasia
................... HP:0500023 Shoulder muscle aplasia

........

Aplasia/Hypoplasia involving the musculature of the upper arm (HP:0001468)

................... HP:0009782 Aplasia/Hypoplasia of the biceps
................... HP:0009784 Aplasia/Hypoplasia of the triceps

........

Upper limb muscle hypoplasia (HP:0009016)

................... HP:0030239 Hypoplasia of the upper arm musculature

Sister Nodes:

Aplasia/Hypoplasia of the musculature of the thigh (HP:0009786)

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:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001467	HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001467	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001467	HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001467	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001467	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001467	HP:0009016	Upper limb muscle hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001467	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001467	HP:0500023	Shoulder muscle aplasia	2	CL E G H
HP:0001467	HP:0030239	Hypoplasia of the upper arm musculature	2	CL E G H
HP:0001467	HP:0008952	Shoulder muscle hypoplasia	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0001467	HP:0009784	Aplasia/Hypoplasia of the triceps	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001467	HP:0009782	Aplasia/Hypoplasia of the biceps	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001467	HP:0008952	Shoulder muscle hypoplasia	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0001467	HP:0008952	Shoulder muscle hypoplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001467	HP:0008952	Shoulder muscle hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001467	HP:0100855	Triceps hypoplasia	3	CL E G H
HP:0001467	HP:0009007	Biceps hypoplasia	3	CL E G H
HP:0001467	HP:0009785	Triceps aplasia	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001467	HP:0009783	Biceps aplasia	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001467	HP:0030241	Hypoplasia of deltoid muscle	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86

Genes (5) :FLNA LMX1B MAP3K7 RBM8A SALL4

Diseases (5) :ORPHA:1826 OMIM:161200 OMIM:274000 OMIM:607323 OMIM:147750

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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