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:
Aplasia/hypoplasia of the extremities (HP:0009815)

Parent Node:
Limb undergrowth (HP:0009826)

..Starting node
..Micromelia (HP:0002983)

Term ID:

2983

Name:

Micromelia

Synonym:

Smaller or shorter than typical limbs

Definition:

The presence of abnormally small extremities.

Comments:

Reference:

HP:0002983

Genes and Diseases:

Child Nodes:

........

Severe limb shortening (HP:0200083)

Sister Nodes:

Distal shortening of limbs (HP:0006402)

Hemiatrophy (HP:0100556)

Lower limb undergrowth (HP:0009816)

Meromelia (HP:0030728)

Mesomelia (HP:0003027)

Rhizomelia (HP:0008905)

Upper limb undergrowth (HP:0009824)

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:0002983	HP:0002983	Micromelia	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type	HP:0040281 - Very frequent	34
HP:0002983	HP:0002983	Micromelia	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0002983	HP:0002983	Micromelia	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0002983	HP:0002983	Micromelia	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0002983	HP:0002983	Micromelia	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0002983	HP:0002983	Micromelia	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002983	HP:0002983	Micromelia	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0002983	HP:0002983	Micromelia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0002983	HP:0002983	Micromelia	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0002983	HP:0002983	Micromelia	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0002983	HP:0002983	Micromelia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0002983	HP:0002983	Micromelia	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0002983	HP:0002983	Micromelia	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0002983	HP:0002983	Micromelia	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0002983	HP:0002983	Micromelia	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	7
HP:0002983	HP:0002983	Micromelia	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0002983	HP:0002983	Micromelia	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent	215
HP:0002983	HP:0002983	Micromelia	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0002983	HP:0002983	Micromelia	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0002983	HP:0002983	Micromelia	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0002983	HP:0002983	Micromelia	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0002983	HP:0002983	Micromelia	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0002983	HP:0002983	Micromelia	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002983	HP:0002983	Micromelia	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002983	HP:0002983	Micromelia	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0002983	HP:0002983	Micromelia	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002983	HP:0002983	Micromelia	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002983	HP:0002983	Micromelia	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0002983	HP:0002983	Micromelia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0002983	HP:0002983	Micromelia	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0002983	HP:0002983	Micromelia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0002983	HP:0002983	Micromelia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0002983	HP:0002983	Micromelia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0002983	HP:0002983	Micromelia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	304
HP:0002983	HP:0002983	Micromelia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0002983	HP:0002983	Micromelia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0002983	HP:0002983	Micromelia	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	7
HP:0002983	HP:0002983	Micromelia	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0002983	HP:0002983	Micromelia	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0002983	HP:0002983	Micromelia	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0002983	HP:0002983	Micromelia	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002983	HP:0002983	Micromelia	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040281 - Very frequent	145
HP:0002983	HP:0002983	Micromelia	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0002983	HP:0002983	Micromelia	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0002983	HP:0002983	Micromelia	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0002983	HP:0002983	Micromelia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0002983	HP:0002983	Micromelia	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0002983	HP:0002983	Micromelia	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0002983	HP:0002983	Micromelia	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002983	HP:0002983	Micromelia	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040282 - Frequent	99
HP:0002983	HP:0002983	Micromelia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0002983	HP:0002983	Micromelia	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0002983	HP:0002983	Micromelia	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0002983	HP:0002983	Micromelia	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent	345
HP:0002983	HP:0002983	Micromelia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0002983	HP:0002983	Micromelia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0002983	HP:0002983	Micromelia	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	31
HP:0002983	HP:0002983	Micromelia	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040281 - Very frequent	15
HP:0002983	HP:0002983	Micromelia	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040281 - Very frequent	29
HP:0002983	HP:0002983	Micromelia	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	148
HP:0002983	HP:0002983	Micromelia	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	48
HP:0002983	HP:0002983	Micromelia	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0002983	HP:0002983	Micromelia	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	65
HP:0002983	HP:0002983	Micromelia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0002983	HP:0002983	Micromelia	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0002983	HP:0002983	Micromelia	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent	44
HP:0002983	HP:0002983	Micromelia	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	.	44
HP:0002983	HP:0002983	Micromelia	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0002983	HP:0002983	Micromelia	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0002983	HP:0002983	Micromelia	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	167
HP:0002983	HP:0002983	Micromelia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002983	HP:0002983	Micromelia	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0002983	HP:0002983	Micromelia	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0002983	HP:0002983	Micromelia	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0002983	HP:0002983	Micromelia	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0002983	HP:0002983	Micromelia	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0002983	HP:0002983	Micromelia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0002983	HP:0002983	Micromelia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002983	HP:0002983	Micromelia	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0002983	HP:0002983	Micromelia	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0002983	HP:0002983	Micromelia	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0002983	HP:0002983	Micromelia	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0002983	HP:0002983	Micromelia	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002983	HP:0002983	Micromelia	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0002983	HP:0002983	Micromelia	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0002983	HP:0002983	Micromelia	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0002983	HP:0002983	Micromelia	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0002983	HP:0002983	Micromelia	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0002983	HP:0002983	Micromelia	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040281 - Very frequent	58
HP:0002983	HP:0002983	Micromelia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0002983	HP:0002983	Micromelia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0002983	HP:0002983	Micromelia	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0002983	HP:0002983	Micromelia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0002983	HP:0002983	Micromelia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0002983	HP:0002983	Micromelia	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0002983	HP:0002983	Micromelia	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0002983	HP:0002983	Micromelia	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0002983	HP:0002983	Micromelia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0002983	HP:0002983	Micromelia	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0002983	HP:0002983	Micromelia	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0002983	HP:0002983	Micromelia	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0002983	HP:0002983	Micromelia	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0002983	HP:0002983	Micromelia	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0002983	HP:0002983	Micromelia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0002983	HP:0002983	Micromelia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0002983	HP:0002983	Micromelia	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0002983	HP:0002983	Micromelia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0002983	HP:0002983	Micromelia	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0002983	HP:0002983	Micromelia	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0002983	HP:0002983	Micromelia	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:0002983	HP:0002983	Micromelia	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0002983	HP:0002983	Micromelia	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0002983	HP:0002983	Micromelia	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	132
HP:0002983	HP:0002983	Micromelia	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	95
HP:0002983	HP:0002983	Micromelia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136
HP:0002983	HP:0002983	Micromelia	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0002983	HP:0002983	Micromelia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0002983	HP:0002983	Micromelia	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0002983	HP:0200083	Severe limb shortening	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0002983	HP:0200083	Severe limb shortening	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133

Genes (93) :ACAN ACTB ADAMTS2 ALPL ANTXR2 APC B3GLCT BMPR1B BRD4 CCDC8 CD96 CDKN1C CEP120 CILK1 COL11A1 COL11A2 COL2A1 CRTAP CSGALNACT1 CUL7 DDR2 DDRGK1 DHCR24 DHCR7 DONSON DPYD DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2 FAM20C FGFR2 FGFR3 FLNB FZD2 GDF5 GLI1 GLUL GPC6 HDAC8 HHAT HSPG2 HYLS1 IDH1 IDH2 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 KIAA0586 KIF7 LBR LIFR LRP4 MATN3 NBAS NIPBL OBSL1 PAM16 PCNT PDE4D PHGDH POLE PRKACA PRKACB PRKAR1A PTH1R PUF60 RAD21 RMRP RNU4ATAC SERPINH1 SHOX SLC26A2 SLC35D1 SMC1A SMC3 SMO TCTN3 TRIP11 TRPV4 TTC21B WDR19 WDR35 WNT5A WNT7A

Diseases (86) :ORPHA:93283 ORPHA:64755 ORPHA:79107 OMIM:225410 OMIM:241500 ORPHA:2176 ORPHA:3258 ORPHA:709 ORPHA:2098 ORPHA:2639 ORPHA:199 ORPHA:2616 ORPHA:1308 OMIM:211750 ORPHA:85173 ORPHA:474 OMIM:612651 ORPHA:440354 ORPHA:2021 ORPHA:93296 ORPHA:85166 OMIM:151210 OMIM:610682 OMIM:618870 OMIM:271665 OMIM:602557 ORPHA:35107 OMIM:270400 OMIM:251230 ORPHA:1675 ORPHA:3107 ORPHA:93271 ORPHA:289 OMIM:259775 ORPHA:87 ORPHA:429 ORPHA:1860 ORPHA:93274 ORPHA:1263 OMIM:610015 ORPHA:93329 ORPHA:1422 OMIM:600092 ORPHA:1865 ORPHA:800 OMIM:255800 ORPHA:2189 ORPHA:296 OMIM:617866 OMIM:617895 ORPHA:63446 OMIM:607778 ORPHA:3144 OMIM:616546 OMIM:215140 ORPHA:1426 ORPHA:3206 OMIM:608728 OMIM:614800 OMIM:122470 OMIM:613320 ORPHA:2637 ORPHA:950 OMIM:256520 OMIM:215045 ORPHA:508488 ORPHA:175 ORPHA:2636 OMIM:210710 OMIM:613848 ORPHA:2632 ORPHA:240 ORPHA:93298 OMIM:600972 ORPHA:56304 OMIM:256050 ORPHA:628 OMIM:241800 ORPHA:2753 ORPHA:93299 OMIM:200600 ORPHA:166272 OMIM:184260 ORPHA:2635 OMIM:614091 ORPHA:2879

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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