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 long bone morphology (HP:0011314)

Parent Node:
Aplasia/Hypoplasia of the fibula (HP:0006492)

Parent Node:
Short long bone (HP:0003026)

..Starting node
..Fibular hypoplasia (HP:0003038)

Term ID:

3038

Name:

Fibular hypoplasia

Synonym:

Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae

Definition:

Underdevelopment of the fibula.

Comments:

Reference:

HP:0003038

Genes and Diseases:

Child Nodes:

........

Rudimentary fibula (HP:0006381)

........

Hypoplasia of proximal fibula (HP:0006442)

Sister Nodes:

Forearm undergrowth (HP:0009821)

Short femur (HP:0003097)

Short humerus (HP:0005792)

Short metatarsal (HP:0010743)

Short tibia (HP:0005736)

Short tubular bones of the hand (HP:0001248)

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:0003038	HP:0003038	Fibular hypoplasia	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0003038	HP:0003038	Fibular hypoplasia	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0003038	HP:0003038	Fibular hypoplasia	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0003038	HP:0003038	Fibular hypoplasia	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0003038	HP:0003038	Fibular hypoplasia	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0003038	HP:0003038	Fibular hypoplasia	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0003038	HP:0003038	Fibular hypoplasia	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003038	HP:0003038	Fibular hypoplasia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0003038	HP:0003038	Fibular hypoplasia	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0003038	HP:0003038	Fibular hypoplasia	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0003038	HP:0003038	Fibular hypoplasia	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0003038	HP:0003038	Fibular hypoplasia	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0003038	HP:0003038	Fibular hypoplasia	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0003038	HP:0003038	Fibular hypoplasia	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.	52
HP:0003038	HP:0003038	Fibular hypoplasia	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0003038	HP:0003038	Fibular hypoplasia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0003038	HP:0003038	Fibular hypoplasia	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0003038	HP:0003038	Fibular hypoplasia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003038	HP:0003038	Fibular hypoplasia	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to	HP:0040283 - Occasional	375
HP:0003038	HP:0003038	Fibular hypoplasia	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0003038	HP:0003038	Fibular hypoplasia	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0003038	HP:0003038	Fibular hypoplasia	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0003038	HP:0003038	Fibular hypoplasia	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0003038	HP:0003038	Fibular hypoplasia	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003038	HP:0003038	Fibular hypoplasia	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0003038	HP:0003038	Fibular hypoplasia	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0003038	HP:0003038	Fibular hypoplasia	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0003038	HP:0003038	Fibular hypoplasia	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0003038	HP:0003038	Fibular hypoplasia	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0003038	HP:0006442	Hypoplasia of proximal fibula	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0003038	HP:0006381	Rudimentary fibula	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0003038	HP:0006381	Rudimentary fibula	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66

Genes (22) :AFF3 AFF4 AMER1 ATR BHLHA9 BMPR1B COL11A1 DYNC2H1 EIF4A3 FLNA GDF5 GPC6 IFT122 INPPL1 INTU MET PTH1R SF3B4 SHOX SLC35D1 SMOC1 SOX9

Diseases (27) :OMIM:619297 ORPHA:444077 OMIM:300373 OMIM:210600 ORPHA:3329 ORPHA:2098 OMIM:228520 OMIM:613091 OMIM:268305 OMIM:304120 OMIM:201250 OMIM:200700 OMIM:228900 OMIM:258315 OMIM:218330 ORPHA:3144 OMIM:617925 OMIM:607278 OMIM:600002 ORPHA:79106 ORPHA:1788 OMIM:249700 OMIM:127300 OMIM:206920 ORPHA:1106 ORPHA:140 OMIM:114290

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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