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 the skeletal system (HP:0000924)

Parent Node:
Abnormal musculoskeletal physiology (HP:0011843)

..Starting node
..Abnormality of skeletal maturation (HP:0000927)

Term ID:

927

Name:

Abnormality of skeletal maturation

Synonym:

Abnormality of skeletal maturation

Definition:

The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.

Comments:

Reference:

HP:0000927

Genes and Diseases:

Child Nodes:

........

Delayed skeletal maturation (HP:0002750)

................... HP:0003799 Marked delay in bone age
................... HP:0005832 Dysharmonic delayed bone age

........

Accelerated skeletal maturation (HP:0005616)

................... HP:0002805 Accelerated bone age after puberty
................... HP:0200001 Dysharmonic accelerated bone age

........

Dysharmonic bone age (HP:0200000)

................... HP:0005832 Dysharmonic delayed bone age
................... HP:0200001 Dysharmonic accelerated bone age

Sister Nodes:

Avascular necrosis (HP:0010885)

Bone pain (HP:0002653)

Increased susceptibility to fractures (HP:0002659)

Limb pain (HP:0009763)

Osteomyelitis (HP:0002754)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease			284
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency			112
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency			60
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome			60
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB			50
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV			50
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial			37
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty			67
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4			4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000927	HP:0000927	Abnormality of skeletal maturation	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		254
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0000927	HP:0002750	Delayed skeletal maturation	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0000927	HP:0002750	Delayed skeletal maturation	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	HP:0040283 - Occasional		7
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000927	HP:0002750	Delayed skeletal maturation	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.		114
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000927	HP:0200000	Dysharmonic bone age	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional		146
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		515
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0000927	HP:0002750	Delayed skeletal maturation	1	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent		284
HP:0000927	HP:0002750	Delayed skeletal maturation	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.		284
HP:0000927	HP:0002750	Delayed skeletal maturation	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000927	HP:0002750	Delayed skeletal maturation	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare		178
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		127
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.		112
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent		112
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency			60
HP:0000927	HP:0002750	Delayed skeletal maturation	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.		60
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0000927	HP:0002750	Delayed skeletal maturation	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		7
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		209
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		137
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent		135
HP:0000927	HP:0200000	Dysharmonic bone age	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional		1361
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.		17
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		17
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		172
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent		172
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.		23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent		23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		87
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040283 - Occasional		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040283 - Occasional		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB	.		50
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV	.		50
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency	HP:0040281 - Very frequent		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	HP:0040283 - Occasional		37
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		173
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent		270
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent		101
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		15
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		92
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040281 - Very frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		4
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		21
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		8
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000927	HP:0002750	Delayed skeletal maturation	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040281 - Very frequent		268
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040281 - Very frequent		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent		44
HP:0000927	HP:0002750	Delayed skeletal maturation	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional		18
HP:0000927	HP:0002750	Delayed skeletal maturation	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent		229
HP:0000927	HP:0002750	Delayed skeletal maturation	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia	.		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.		14
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		14
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0000927	HP:0002750	Delayed skeletal maturation	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	.		196
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent		47
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent		46
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL			1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent		67
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		43
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional		12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12	HP:0040283 - Occasional		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.		94
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4	.		4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0000927	HP:0002750	Delayed skeletal maturation	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2			5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040281 - Very frequent		40
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	HP:0011463 - Childhood onset	55
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities	HP:0040283 - Occasional		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		48
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		38
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040282 - Frequent		544
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000927	HP:0002750	Delayed skeletal maturation	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		143
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000927	HP:0002750	Delayed skeletal maturation	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		41
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent		113
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		36
HP:0000927	HP:0002750	Delayed skeletal maturation	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		54
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent		665
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0000927	HP:0002750	Delayed skeletal maturation	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0000927	HP:0002750	Delayed skeletal maturation	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040283 - Occasional		125
HP:0000927	HP:0002750	Delayed skeletal maturation	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:0000927	HP:0002750	Delayed skeletal maturation	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	.		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent		53
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040283 - Occasional		146
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040283 - Occasional		146
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		109
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000927	HP:0002750	Delayed skeletal maturation	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent		89
HP:0000927	HP:0002750	Delayed skeletal maturation	1	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0000927	HP:0002750	Delayed skeletal maturation	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040281 - Very frequent		11
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000927	HP:0002750	Delayed skeletal maturation	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent		166
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0000927	HP:0002750	Delayed skeletal maturation	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent		97
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0000927	HP:0002750	Delayed skeletal maturation	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0000927	HP:0002750	Delayed skeletal maturation	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0000927	HP:0002750	Delayed skeletal maturation	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		10
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		177
HP:0000927	HP:0002750	Delayed skeletal maturation	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		149
HP:0000927	HP:0002750	Delayed skeletal maturation	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0000927	HP:0002750	Delayed skeletal maturation	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0000927	HP:0005616	Accelerated skeletal maturation	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional		31
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000927	HP:0002750	Delayed skeletal maturation	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0000927	HP:0200001	Dysharmonic accelerated bone age	2	CL E G H
HP:0000927	HP:0005832	Dysharmonic delayed bone age	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000927	HP:0003799	Marked delay in bone age	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0000927	HP:0003799	Marked delay in bone age	2	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.		43
HP:0000927	HP:0002805	Accelerated bone age after puberty	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000927	HP:0002805	Accelerated bone age after puberty	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171

Genes (387) :ABCC9 ABCD4 ACAN AGA AGPAT2 AHSG AIFM1 AIP ALDH18A1 ALG9 ALMS1 ANAPC1 ANKRD11 ANKRD17 ANOS1 ANTXR1 APC2 ARCN1 ARID1A ARID1B ARID2 ASXL2 ATP8 ATR ATRIP ATRX B3GAT3 B4GALT7 BAZ1B BCL7B BMP15 BMP2 BMPR1B BNC1 BRAF BRD4 BRF1 BSCL2 BTK BUD23 CANT1 CARS1 CAV1 CAVIN1 CBL CCBE1 CCDC141 CCDC8 CD96 CDC45 CDC6 CDKN1C CDT1 CENPE CENPJ CENPT CEP152 CEP57 CHD7 CHP1 CHST3 CKAP2L CLIP2 COL2A1 COX4I1 COX4I2 CPLX1 CREBBP CSGALNACT1 CTBP1 CTNS CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DCAF17 DCC DDB2 DDOST DDX6 DHX37 DMRT3 DNAJC21 DNAJC30 DONSON DPF2 DPP6 DUSP6 DVL1 DYNC2LI1 EED EFL1 EIF4H ELN ENPP1 EP300 ERCC2 ERCC3 ERCC4 ERCC5 ESR1 EVC EVC2 EXT1 EXTL3 EYA1 EZH2 FAM111A FARSB FBN1 FEZF1 FGF17 FGF8 FGFR1 FGFRL1 FKBP6 FLNB FLRT3 FMR1 FOS FOXA2 FSHB FSHR GATA4 GBA1 GDF5 GH1 GHR GHRHR GHSR GJA1 GLI1 GLI2 GLI3 GMNN GNAS GNRH1 GNRHR GPC3 GPC4 GPR101 GPX4 GRB10 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H19-ICR HDAC8 HESX1 HMGA2 HRAS HS6ST1 HSD11B1 HSD17B4 HSPG2 HUWE1 IFT57 IGF1 IGF1R IGF2 IGFALS IHH IL17RD INPPL1 INSR ITCH ITGB6 KARS1 KCNJ2 KCNJ8 KCNQ1 KCNQ1OT1 KIF15 KISS1 KISS1R KMT2A KRAS LEP LEPR LETM1 LGR4 LHCGR LHX4 LIG4 LIMK1 LONP1 LPIN2 LSS LTBP3 LZTR1 MADD MALT1 MAP3K1 MAP3K7 MBTPS2 MC2R MCM9 MECP2 MEN1 METTL27 MKRN3 MLXIPL MMP13 MPLKIP MRAS MRPS22 MSMO1 MSTO1 MVK NAA10 NBAS NCF1 NDNF NELFA NEU1 NFE2L2 NFIX NGLY1 NIN NIPBL NMNAT1 NPR2 NR0B1 NR2F1 NR5A1 NRAS NSD1 NSD2 NSMF NSUN2 NUP107 NUP85 OBSL1 ORC1 ORC4 ORC6 OTX2 PAM16 PAX1 PAX8 PCGF2 PCNT PCSK1 PDE4D PDGFRB PEX1 PEX6 PIGG PIGT PIK3C2A PIK3R1 PLK4 POLA1 POLR3H POMC POP1 POR POU1F1 POU3F4 PPARG PPP1CB PPP1R15B PPP1R21 PPP2R3C PRKACA PRKACB PRKAR1A PRKG2 PROK2 PROKR2 PROP1 PSMC3IP PTCH1 PTDSS1 PTEN PTH1R PTPN11 QRICH1 RAD21 RAF1 RASA2 RBBP8 RBM28 RECQL4 RFC2 RIT1 RMRP RNF113A RNF13 RNF135 RNPC3 RNU4ATAC ROR2 RPS6KA3 RRAS RRAS2 RRM2B RSPRY1 SBDS SCARB2 SECISBP2 SEMA3A SETD2 SHANK3 SHOC2 SIN3A SIN3B SLC10A7 SLC25A24 SLC26A2 SLC29A3 SLC35D1 SLC7A7 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD1 SOHLH1 SOS1 SOS2 SOX10 SOX11 SOX3 SOX4 SOX9 SPIDR SPRED2 SPRTN SPRY4 SRCAP SRP54 SRY STAT1 STAT5B STX1A SUZ12 TAB2 TAC3 TACR3 TAF13 TARS1 TBCE TBCK TBL2 TCF20 TET3 THRA TMEM270 TMEM67 TOM1 TONSL TP53 TRAIP TRH TRHR TRNL1 TRPS1 TRPV4 TSHB TSHR UBR1 UFSP2 VAMP7 VPS37D WDR11 WDR4 WNT5A WT1 WWOX XPA XPC XYLT1 ZEB2 ZFPM2 ZNF699 ZSWIM7

Diseases (340) :OMIM:239850 ORPHA:1517 OMIM:614857 OMIM:165800 OMIM:608361 OMIM:208400 ORPHA:93 ORPHA:528 OMIM:608594 ORPHA:2850 OMIM:300232 ORPHA:99725 OMIM:219150 OMIM:601162 OMIM:608776 ORPHA:64 OMIM:203800 ORPHA:221008 OMIM:618625 OMIM:148050 ORPHA:2332 OMIM:619504 ORPHA:478 ORPHA:2067 OMIM:230740 ORPHA:821 OMIM:617164 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617190 ORPHA:480 ORPHA:808 OMIM:210600 OMIM:309580 OMIM:245600 OMIM:130070 ORPHA:904 ORPHA:243 OMIM:617877 OMIM:609441 OMIM:115150 OMIM:613707 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:269700 OMIM:307200 ORPHA:1425 ORPHA:33364 OMIM:613327 ORPHA:648 OMIM:235510 ORPHA:2616 OMIM:211750 ORPHA:2554 OMIM:613805 OMIM:130650 OMIM:614732 OMIM:613804 OMIM:618702 OMIM:613823 OMIM:614114 ORPHA:432 OMIM:618438 OMIM:143095 ORPHA:3255 ORPHA:85198 ORPHA:2380 OMIM:150600 OMIM:619060 OMIM:612714 ORPHA:280 OMIM:194190 OMIM:180849 ORPHA:353281 OMIM:618870 OMIM:219800 ORPHA:411634 OMIM:273750 ORPHA:90796 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:90793 OMIM:613546 ORPHA:91 OMIM:139300 ORPHA:3464 ORPHA:910 OMIM:614507 ORPHA:300536 OMIM:618653 ORPHA:251510 ORPHA:811 OMIM:260400 OMIM:617604 OMIM:616311 OMIM:180700 ORPHA:289 OMIM:617561 ORPHA:3447 OMIM:613312 OMIM:615363 ORPHA:785 ORPHA:502 ORPHA:508533 ORPHA:2792 OMIM:277590 ORPHA:93325 OMIM:613658 OMIM:102370 ORPHA:969 OMIM:614185 OMIM:608328 OMIM:612702 ORPHA:2645 OMIM:272460 ORPHA:261483 ORPHA:95494 OMIM:229070 ORPHA:52901 ORPHA:77259 ORPHA:77261 ORPHA:63442 OMIM:113100 OMIM:612781 OMIM:262650 ORPHA:633 OMIM:262500 ORPHA:314802 OMIM:618157 OMIM:615925 ORPHA:314811 OMIM:257850 ORPHA:380 OMIM:175700 OMIM:616835 ORPHA:562 ORPHA:373 OMIM:312870 OMIM:300942 ORPHA:93317 ORPHA:96182 OMIM:616943 OMIM:617537 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:618908 ORPHA:3071 OMIM:614662 OMIM:261515 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:617927 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:616489 ORPHA:140941 ORPHA:63446 ORPHA:2746 ORPHA:3144 OMIM:246200 ORPHA:2297 ORPHA:769 OMIM:613385 OMIM:619147 OMIM:170390 ORPHA:261323 OMIM:614842 OMIM:614837 ORPHA:319182 OMIM:605130 OMIM:609942 ORPHA:66628 ORPHA:179494 OMIM:619613 ORPHA:3000 OMIM:262700 ORPHA:235 ORPHA:1458 OMIM:600373 OMIM:609628 OMIM:601216 OMIM:617809 OMIM:619004 OMIM:615468 OMIM:157800 ORPHA:2273 OMIM:202200 OMIM:616185 ORPHA:1762 OMIM:615346 ORPHA:2501 OMIM:602111 OMIM:618117 OMIM:616834 ORPHA:502423 OMIM:617675 ORPHA:29 OMIM:300855 OMIM:614800 ORPHA:812 OMIM:617744 ORPHA:420179 OMIM:602535 ORPHA:561 OMIM:614753 ORPHA:404454 ORPHA:319675 OMIM:614851 OMIM:122470 OMIM:619260 OMIM:616255 ORPHA:401777 ORPHA:228415 OMIM:117550 OMIM:612921 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:613320 OMIM:218700 OMIM:618371 ORPHA:2637 OMIM:210720 ORPHA:71528 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:601812 ORPHA:3220 OMIM:214100 ORPHA:369837 OMIM:615398 ORPHA:557003 OMIM:618440 OMIM:269880 ORPHA:163976 ORPHA:71526 OMIM:617396 ORPHA:95699 ORPHA:1435 ORPHA:2701 OMIM:617506 OMIM:616817 OMIM:619383 OMIM:618419 OMIM:101800 OMIM:619636 OMIM:619638 ORPHA:90695 ORPHA:77301 OMIM:151050 ORPHA:2658 ORPHA:109 ORPHA:50945 OMIM:215045 OMIM:617982 ORPHA:157954 ORPHA:221016 ORPHA:175 OMIM:618379 ORPHA:544503 ORPHA:137634 OMIM:618160 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:268310 ORPHA:192 OMIM:303600 ORPHA:457395 OMIM:616723 ORPHA:171706 OMIM:609698 ORPHA:48652 ORPHA:500166 OMIM:613406 OMIM:618363 OMIM:612289 ORPHA:93307 ORPHA:168569 ORPHA:470 OMIM:222700 OMIM:619293 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:614608 ORPHA:77293 OMIM:617690 OMIM:610733 ORPHA:67045 OMIM:619665 OMIM:616200 OMIM:136140 ORPHA:2044 ORPHA:1772 ORPHA:391487 OMIM:618985 OMIM:618786 ORPHA:228410 OMIM:617432 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 ORPHA:488632 OMIM:618430 OMIM:618798 OMIM:614450 ORPHA:140976 OMIM:602152 OMIM:271510 OMIM:618165 OMIM:275120 OMIM:618573 ORPHA:99832 OMIM:190350 OMIM:190351 OMIM:156530 OMIM:184252 ORPHA:90674 ORPHA:424 OMIM:609152 OMIM:243800 ORPHA:2315 OMIM:617974 OMIM:618347 ORPHA:370930 ORPHA:261552 ORPHA:261537 OMIM:619488

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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