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:
Abnormal appendicular skeleton morphology (HP:0011844)

Parent Node:
Abnormal pelvic girdle bone morphology (HP:0002644)

..Starting node
..Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Term ID:

9103

Name:

Aplasia/Hypoplasia involving the pelvis

Synonym:

Absent/small pelvis; Absent/underdeveloped pelvis

Definition:

Comments:

Reference:

HP:0009103

Genes and Diseases:

Child Nodes:

........

Hypoplastic pelvis (HP:0008839)

........

Aplasia/Hypoplasia of the pubic bone (HP:0009104)

................... HP:0003173 Hypoplastic pubic bone
................... HP:0008817 Aplastic pubic bones

........

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

................... HP:0008802 Hypoplasia of the femoral head
................... HP:0100862 Aplasia of the femoral head
................... HP:0100863 Aplasia of the femoral neck
................... HP:0100864 Short femoral neck

Sister Nodes:

Abnormal coccyx morphology (HP:0008519)

Abnormal greater sciatic notch morphology (HP:0010456)

Abnormal hip bone morphology (HP:0003272)

Abnormal pelvis bone morphology (HP:0040163)

Abnormal pelvis bone ossification (HP:0009106)

Limited hip movement (HP:0008800)

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:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9		6
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent	12
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009103	HP:0009103	Aplasia/Hypoplasia involving the pelvis	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0009103	HP:0008839	Hypoplastic pelvis	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0009103	HP:0008839	Hypoplastic pelvis	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0009103	HP:0008839	Hypoplastic pelvis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009103	HP:0008839	Hypoplastic pelvis	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0009103	HP:0008839	Hypoplastic pelvis	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0009103	HP:0008839	Hypoplastic pelvis	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0009103	HP:0008839	Hypoplastic pelvis	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009103	HP:0008839	Hypoplastic pelvis	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0009103	HP:0008839	Hypoplastic pelvis	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0009103	HP:0008839	Hypoplastic pelvis	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009103	HP:0008839	Hypoplastic pelvis	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0009103	HP:0008839	Hypoplastic pelvis	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009103	HP:0008839	Hypoplastic pelvis	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0009103	HP:0008839	Hypoplastic pelvis	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0009103	HP:0008839	Hypoplastic pelvis	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009103	HP:0008839	Hypoplastic pelvis	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9		6
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009103	HP:0008839	Hypoplastic pelvis	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0009103	HP:0008839	Hypoplastic pelvis	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0009103	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009103	HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0009103	HP:0100863	Aplasia of the femoral neck	2	CL E G H
HP:0009103	HP:0100862	Aplasia of the femoral head	2	CL E G H
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0009103	HP:0100864	Short femoral neck	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0009103	HP:0100864	Short femoral neck	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0009103	HP:0100864	Short femoral neck	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009103	HP:0100864	Short femoral neck	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0009103	HP:0100864	Short femoral neck	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0009103	HP:0100864	Short femoral neck	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0009103	HP:0100864	Short femoral neck	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0009103	HP:0100864	Short femoral neck	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0009103	HP:0100864	Short femoral neck	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0009103	HP:0100864	Short femoral neck	2	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0009103	HP:0100864	Short femoral neck	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0009103	HP:0100864	Short femoral neck	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0009103	HP:0100864	Short femoral neck	2	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0009103	HP:0100864	Short femoral neck	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0009103	HP:0100864	Short femoral neck	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0009103	HP:0100864	Short femoral neck	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0100864	Short femoral neck	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0009103	HP:0100864	Short femoral neck	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0009103	HP:0100864	Short femoral neck	2	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:0009103	HP:0100864	Short femoral neck	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0009103	HP:0100864	Short femoral neck	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0009103	HP:0100864	Short femoral neck	2	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0009103	HP:0008802	Hypoplasia of the femoral head	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0009103	HP:0008802	Hypoplasia of the femoral head	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0009103	HP:0100864	Short femoral neck	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0009103	HP:0100864	Short femoral neck	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0009103	HP:0100864	Short femoral neck	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009103	HP:0100864	Short femoral neck	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0009103	HP:0100864	Short femoral neck	2	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:0009103	HP:0100864	Short femoral neck	2	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0009103	HP:0100864	Short femoral neck	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009103	HP:0100864	Short femoral neck	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0009103	HP:0100864	Short femoral neck	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009103	HP:0100864	Short femoral neck	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0009103	HP:0100864	Short femoral neck	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0009103	HP:0100864	Short femoral neck	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0009103	HP:0008802	Hypoplasia of the femoral head	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0009103	HP:0100864	Short femoral neck	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0009103	HP:0100864	Short femoral neck	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0009103	HP:0100864	Short femoral neck	2	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:0009103	HP:0100864	Short femoral neck	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0009103	HP:0100864	Short femoral neck	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009103	HP:0100864	Short femoral neck	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0009103	HP:0100864	Short femoral neck	2	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0009103	HP:0100864	Short femoral neck	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0009103	HP:0100864	Short femoral neck	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0009103	HP:0008802	Hypoplasia of the femoral head	2	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0009103	HP:0100864	Short femoral neck	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009103	HP:0100864	Short femoral neck	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0009103	HP:0100864	Short femoral neck	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0009103	HP:0003173	Hypoplastic pubic bone	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0009103	HP:0100864	Short femoral neck	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0009103	HP:0100864	Short femoral neck	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0009103	HP:0008802	Hypoplasia of the femoral head	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional	6
HP:0009103	HP:0100864	Short femoral neck	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0009103	HP:0100864	Short femoral neck	2	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0009103	HP:0100864	Short femoral neck	2	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0009103	HP:0100864	Short femoral neck	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0009103	HP:0008817	Aplastic pubic bones	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0009103	HP:0100864	Short femoral neck	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0009103	HP:0008822	Hypoplastic ischiopubic rami	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009103	HP:0008823	Hypoplastic inferior pubic rami	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0009103	HP:0008830	Hypoplastic pubic rami	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7

Genes (71) :ABCC9 AIFM1 B3GALT6 BMPR1B CANT1 CCDC8 CCN6 CEP120 CFAP410 CHD4 CHST3 COL11A2 COL2A1 COMP CPLX1 CTBP1 CTC1 CUL7 DDRGK1 DLK1 ERCC6 ERCC8 EXOC6B FGFR3 FN1 HSPG2 IDUA IFNGR1 IFT140 IHH INPPL1 INTU KAT6B LBR LETM1 MATN3 MEG3 MMP9 MTX2 NANS NELFA NSD2 NSDHL OBSL1 PEX5 PIGG PIK3C2A POC1A POP1 PORCN PRG4 RAD21 RSPO2 RSPRY1 RTL1 RUNX2 SETBP1 SHOX SLC10A7 SLC26A2 SLC39A13 SMARCAL1 TBX15 TMEM67 TONSL TRAF3IP1 TRAPPC2 TRPV4 WNT3 WNT7A XYLT1

Diseases (86) :OMIM:239850 OMIM:300232 OMIM:271640 OMIM:609441 OMIM:251450 OMIM:617719 ORPHA:2616 ORPHA:1159 OMIM:616300 OMIM:602271 OMIM:617159 OMIM:143095 OMIM:614524 OMIM:609162 OMIM:156550 ORPHA:166011 ORPHA:85166 OMIM:151210 ORPHA:93346 OMIM:184250 ORPHA:94068 OMIM:184255 ORPHA:93316 OMIM:132400 ORPHA:750 ORPHA:280 OMIM:612199 OMIM:273750 OMIM:602557 ORPHA:96334 OMIM:133540 OMIM:216400 OMIM:618395 OMIM:100800 OMIM:187600 ORPHA:1865 OMIM:607014 OMIM:209950 OMIM:266920 OMIM:607778 ORPHA:2746 OMIM:258480 OMIM:617925 OMIM:606170 OMIM:618019 OMIM:607078 OMIM:608728 OMIM:613073 OMIM:619127 OMIM:610442 OMIM:308050 OMIM:616716 OMIM:618440 OMIM:614813 OMIM:617396 ORPHA:2092 ORPHA:2848 OMIM:614701 OMIM:618022 ORPHA:3301 ORPHA:457395 OMIM:616723 OMIM:119600 OMIM:269150 ORPHA:798 OMIM:249700 ORPHA:2632 OMIM:618363 OMIM:226900 ORPHA:93307 OMIM:612350 ORPHA:157965 ORPHA:1830 OMIM:260660 OMIM:602152 ORPHA:93357 OMIM:616629 ORPHA:93284 OMIM:313400 OMIM:113500 ORPHA:93314 OMIM:273395 OMIM:228930 ORPHA:2879 OMIM:276820 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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