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 upper limb joint (HP:0009810)

Grandparent Node:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormality of the elbow (HP:0009811)

Parent Node:
Synostosis involving bones of the upper limbs (HP:0100238)

..Starting node
..Synostosis involving the elbow (HP:0003938)

Term ID:

3938

Name:

Synostosis involving the elbow

Synonym:

Bone fusion involving the elbow

Definition:

Comments:

Reference:

HP:0003938

Genes and Diseases:

Child Nodes:

........

Humeroradial synostosis (HP:0003041)

........

Humeroulnar synostosis (HP:0003939)

Sister Nodes:

Radioulnar synostosis (HP:0002974)

Scapulohumeral synostosis (HP:0006595)

Synostosis involving bones of the hand (HP:0004278)

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:0003938	HP:0003938	Synostosis involving the elbow	0	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0003938	HP:0003938	Synostosis involving the elbow	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0003938	HP:0003938	Synostosis involving the elbow	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0003938	HP:0003938	Synostosis involving the elbow	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0003938	HP:0003938	Synostosis involving the elbow	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0003938	HP:0003938	Synostosis involving the elbow	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0003938	HP:0003938	Synostosis involving the elbow	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0003938	HP:0003938	Synostosis involving the elbow	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0003938	HP:0003938	Synostosis involving the elbow	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0003938	HP:0003938	Synostosis involving the elbow	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0003938	HP:0003938	Synostosis involving the elbow	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0003938	HP:0003938	Synostosis involving the elbow	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0003938	HP:0003938	Synostosis involving the elbow	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0003938	HP:0003938	Synostosis involving the elbow	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0003938	HP:0003938	Synostosis involving the elbow	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0003938	HP:0003938	Synostosis involving the elbow	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003938	HP:0003939	Humeroulnar synostosis	1	CL E G H
HP:0003938	HP:0003041	Humeroradial synostosis	1	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0003938	HP:0003041	Humeroradial synostosis	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0003938	HP:0003041	Humeroradial synostosis	1	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0003938	HP:0003041	Humeroradial synostosis	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0003938	HP:0003041	Humeroradial synostosis	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0003938	HP:0003041	Humeroradial synostosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0003938	HP:0003041	Humeroradial synostosis	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0003938	HP:0003041	Humeroradial synostosis	1	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2	.	52
HP:0003938	HP:0003041	Humeroradial synostosis	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0003938	HP:0003041	Humeroradial synostosis	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003938	HP:0003041	Humeroradial synostosis	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0003938	HP:0003041	Humeroradial synostosis	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0003938	HP:0003041	Humeroradial synostosis	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0003938	HP:0003041	Humeroradial synostosis	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0003938	HP:0003041	Humeroradial synostosis	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0003938	HP:0003041	Humeroradial synostosis	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (11) :CYP26B1 DONSON FGF9 FGFR1 FGFR2 GDF5 NOG POR PTDSS1 TBX15 WNT7A

Diseases (14) :OMIM:614416 OMIM:251230 OMIM:612961 OMIM:101600 OMIM:207410 OMIM:101200 OMIM:610017 OMIM:186570 OMIM:201750 ORPHA:95699 OMIM:151050 ORPHA:93333 ORPHA:2879 OMIM:276820

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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