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 femur morphology (HP:0002823)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Abnormal femoral neck/head morphology (HP:0003366)

Parent Node:
Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Parent Node:
Aplasia/hypoplasia of the femur (HP:0005613)

..Starting node
..Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Term ID:

9108

Name:

Aplasia/Hypoplasia involving the femoral head and neck

Synonym:

Absent/small head and neck of thighbone; Absent/underdeveloped head and neck of thighbone

Definition:

Comments:

Reference:

HP:0009108

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the femoral head (HP:0008802)

........

Aplasia of the femoral head (HP:0100862)

........

Aplasia of the femoral neck (HP:0100863)

........

Short femoral neck (HP:0100864)

Sister Nodes:

Femoral aplasia (HP:0012744)

Proximal femoral focal deficiency (HP:0030772)

Short femur (HP:0003097)

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:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9		6
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009108	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0009108	HP:0100863	Aplasia of the femoral neck	1	CL E G H
HP:0009108	HP:0100862	Aplasia of the femoral head	1	CL E G H
HP:0009108	HP:0100864	Short femoral neck	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0009108	HP:0100864	Short femoral neck	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0009108	HP:0100864	Short femoral neck	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009108	HP:0100864	Short femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0009108	HP:0100864	Short femoral neck	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0009108	HP:0100864	Short femoral neck	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0009108	HP:0100864	Short femoral neck	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0009108	HP:0100864	Short femoral neck	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0009108	HP:0100864	Short femoral neck	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0009108	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0009108	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0009108	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0009108	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0009108	HP:0100864	Short femoral neck	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0009108	HP:0100864	Short femoral neck	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0009108	HP:0100864	Short femoral neck	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0009108	HP:0100864	Short femoral neck	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0009108	HP:0100864	Short femoral neck	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0009108	HP:0100864	Short femoral neck	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0009108	HP:0100864	Short femoral neck	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0009108	HP:0100864	Short femoral neck	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0009108	HP:0100864	Short femoral neck	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0009108	HP:0008802	Hypoplasia of the femoral head	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0009108	HP:0008802	Hypoplasia of the femoral head	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0009108	HP:0100864	Short femoral neck	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0009108	HP:0100864	Short femoral neck	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009108	HP:0100864	Short femoral neck	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0009108	HP:0100864	Short femoral neck	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0009108	HP:0100864	Short femoral neck	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0009108	HP:0100864	Short femoral neck	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0009108	HP:0100864	Short femoral neck	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009108	HP:0100864	Short femoral neck	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0009108	HP:0100864	Short femoral neck	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0009108	HP:0100864	Short femoral neck	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0009108	HP:0100864	Short femoral neck	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0009108	HP:0100864	Short femoral neck	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0009108	HP:0008802	Hypoplasia of the femoral head	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0009108	HP:0100864	Short femoral neck	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0009108	HP:0100864	Short femoral neck	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0009108	HP:0100864	Short femoral neck	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0009108	HP:0100864	Short femoral neck	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0009108	HP:0100864	Short femoral neck	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009108	HP:0100864	Short femoral neck	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009108	HP:0100864	Short femoral neck	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0009108	HP:0100864	Short femoral neck	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0009108	HP:0100864	Short femoral neck	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0009108	HP:0008802	Hypoplasia of the femoral head	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0009108	HP:0100864	Short femoral neck	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009108	HP:0100864	Short femoral neck	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0009108	HP:0100864	Short femoral neck	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0009108	HP:0100864	Short femoral neck	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0009108	HP:0100864	Short femoral neck	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0009108	HP:0008802	Hypoplasia of the femoral head	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional	6
HP:0009108	HP:0100864	Short femoral neck	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0009108	HP:0100864	Short femoral neck	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0009108	HP:0100864	Short femoral neck	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0009108	HP:0100864	Short femoral neck	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0009108	HP:0100864	Short femoral neck	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14

Genes (45) :AIFM1 B3GALT6 BMPR1B CANT1 CCN6 CFAP410 CHD4 CHST3 COL2A1 COMP CTC1 DDRGK1 DLK1 EXOC6B FGFR3 FN1 IDUA IFNGR1 IFT140 IHH LBR MATN3 MEG3 MMP9 MTX2 NANS PEX5 PIK3C2A POC1A POP1 PRG4 RAD21 RSPRY1 RTL1 RUNX2 SHOX SLC10A7 SLC26A2 SLC39A13 TMEM67 TONSL TRAF3IP1 TRAPPC2 TRPV4 XYLT1

Diseases (54) :OMIM:300232 OMIM:271640 OMIM:609441 OMIM:251450 OMIM:617719 ORPHA:1159 OMIM:602271 OMIM:617159 OMIM:143095 OMIM:609162 ORPHA:166011 ORPHA:94068 OMIM:184255 ORPHA:93316 OMIM:132400 ORPHA:750 OMIM:612199 OMIM:602557 ORPHA:96334 OMIM:618395 OMIM:100800 OMIM:607014 OMIM:209950 OMIM:266920 OMIM:607778 OMIM:618019 OMIM:607078 OMIM:613073 OMIM:619127 OMIM:610442 OMIM:616716 OMIM:618440 OMIM:614813 OMIM:617396 ORPHA:2848 OMIM:614701 ORPHA:457395 OMIM:616723 OMIM:119600 ORPHA:2632 OMIM:249700 OMIM:618363 OMIM:226900 ORPHA:93307 OMIM:612350 ORPHA:157965 OMIM:602152 ORPHA:93357 OMIM:616629 ORPHA:93284 OMIM:313400 OMIM:113500 ORPHA:93314 ORPHA:370930

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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