Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal skull morphology (HP:0000929)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormal mandible morphology (HP:0000277)

Parent Node:
Aplasia/Hypoplasia involving bones of the skull (HP:0009116)

..Starting node
..Aplasia/Hypoplasia of the mandible (HP:0009118)

Term ID:

9118

Name:

Aplasia/Hypoplasia of the mandible

Synonym:

Definition:

Absence or underdevelopment of the mandible.

Comments:

Reference:

HP:0009118

Genes and Diseases:

Child Nodes:

........

Micrognathia (HP:0000347)

................... HP:0000308 Microretrognathia
................... HP:0003778 Short mandibular rami

........

Mandibular aplasia (HP:0009939)

Sister Nodes:

Aplasia/Hypoplasia involving the sinuses (HP:0009120)

Aplasia/Hypoplasia of the maxilla (HP:0009117)

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:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	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:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	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:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2			222
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040281 - Very frequent		145
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2			167
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)			46
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome			109
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension			55
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		171
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0009118	HP:0009118	Aplasia/Hypoplasia of the mandible	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009118	HP:0000347	Micrognathia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0009118	HP:0000347	Micrognathia	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0009118	HP:0000347	Micrognathia	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0009118	HP:0000347	Micrognathia	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0009118	HP:0000347	Micrognathia	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0009118	HP:0000347	Micrognathia	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0009118	HP:0000347	Micrognathia	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0009118	HP:0000347	Micrognathia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0009118	HP:0000347	Micrognathia	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		165
HP:0009118	HP:0000347	Micrognathia	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0009118	HP:0000347	Micrognathia	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		72
HP:0009118	HP:0000347	Micrognathia	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0009118	HP:0000347	Micrognathia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0009118	HP:0000347	Micrognathia	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0009118	HP:0000347	Micrognathia	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0009118	HP:0000347	Micrognathia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0009118	HP:0000347	Micrognathia	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0009118	HP:0000347	Micrognathia	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0009118	HP:0000347	Micrognathia	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0009118	HP:0000347	Micrognathia	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0009118	HP:0000347	Micrognathia	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0009118	HP:0000347	Micrognathia	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0009118	HP:0000347	Micrognathia	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0009118	HP:0000347	Micrognathia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0009118	HP:0000347	Micrognathia	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0009118	HP:0000347	Micrognathia	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0009118	HP:0000347	Micrognathia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0009118	HP:0000347	Micrognathia	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0009118	HP:0000347	Micrognathia	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		132
HP:0009118	HP:0000347	Micrognathia	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0009118	HP:0000347	Micrognathia	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0009118	HP:0000347	Micrognathia	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0009118	HP:0000347	Micrognathia	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0009118	HP:0000347	Micrognathia	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0009118	HP:0000347	Micrognathia	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0009118	HP:0000347	Micrognathia	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0009118	HP:0000347	Micrognathia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0009118	HP:0000347	Micrognathia	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0009118	HP:0000347	Micrognathia	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0009118	HP:0000347	Micrognathia	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0009118	HP:0000347	Micrognathia	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional		219
HP:0009118	HP:0000347	Micrognathia	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0009118	HP:0000347	Micrognathia	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0009118	HP:0000347	Micrognathia	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional		166
HP:0009118	HP:0000347	Micrognathia	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0009118	HP:0000347	Micrognathia	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0009118	HP:0000347	Micrognathia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0009118	HP:0000347	Micrognathia	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0009118	HP:0000347	Micrognathia	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0009118	HP:0000347	Micrognathia	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0009118	HP:0000347	Micrognathia	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0009118	HP:0000347	Micrognathia	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0009118	HP:0000347	Micrognathia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0009118	HP:0000347	Micrognathia	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0009118	HP:0000347	Micrognathia	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0009118	HP:0000347	Micrognathia	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0009118	HP:0000347	Micrognathia	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0009118	HP:0000347	Micrognathia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0009118	HP:0000347	Micrognathia	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0009118	HP:0000347	Micrognathia	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0009118	HP:0000347	Micrognathia	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0009118	HP:0000347	Micrognathia	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0009118	HP:0000347	Micrognathia	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0009118	HP:0000347	Micrognathia	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0009118	HP:0000347	Micrognathia	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0009118	HP:0000347	Micrognathia	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:0009118	HP:0000347	Micrognathia	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0009118	HP:0000347	Micrognathia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0009118	HP:0000347	Micrognathia	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0009118	HP:0000347	Micrognathia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0009118	HP:0000347	Micrognathia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0009118	HP:0000347	Micrognathia	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0009118	HP:0000347	Micrognathia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0009118	HP:0000347	Micrognathia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0009118	HP:0000347	Micrognathia	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0009118	HP:0000347	Micrognathia	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0009118	HP:0000347	Micrognathia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0009118	HP:0000347	Micrognathia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0009118	HP:0000347	Micrognathia	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0009118	HP:0000347	Micrognathia	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0009118	HP:0000347	Micrognathia	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0009118	HP:0000347	Micrognathia	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0009118	HP:0000347	Micrognathia	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0009118	HP:0000347	Micrognathia	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0009118	HP:0000347	Micrognathia	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	HP:0040283 - Occasional		20
HP:0009118	HP:0000347	Micrognathia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0009118	HP:0000347	Micrognathia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0009118	HP:0000347	Micrognathia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0009118	HP:0000347	Micrognathia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0009118	HP:0000347	Micrognathia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0009118	HP:0000347	Micrognathia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0009118	HP:0000347	Micrognathia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent		13
HP:0009118	HP:0000347	Micrognathia	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0009118	HP:0000347	Micrognathia	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040283 - Occasional		15
HP:0009118	HP:0000347	Micrognathia	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0009118	HP:0000347	Micrognathia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0009118	HP:0000347	Micrognathia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0009118	HP:0000347	Micrognathia	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0009118	HP:0000347	Micrognathia	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0009118	HP:0000347	Micrognathia	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0009118	HP:0000347	Micrognathia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0009118	HP:0000347	Micrognathia	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0009118	HP:0000347	Micrognathia	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0009118	HP:0000347	Micrognathia	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0009118	HP:0000347	Micrognathia	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0009118	HP:0000347	Micrognathia	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0009118	HP:0000347	Micrognathia	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0009118	HP:0000347	Micrognathia	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0009118	HP:0000347	Micrognathia	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0009118	HP:0000347	Micrognathia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009118	HP:0009939	Mandibular aplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0009118	HP:0000347	Micrognathia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0009118	HP:0009939	Mandibular aplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0009118	HP:0000347	Micrognathia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0009118	HP:0000347	Micrognathia	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0009118	HP:0000347	Micrognathia	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		4
HP:0009118	HP:0000347	Micrognathia	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0009118	HP:0000347	Micrognathia	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0009118	HP:0000347	Micrognathia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0009118	HP:0009939	Mandibular aplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0009118	HP:0000347	Micrognathia	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0009118	HP:0000347	Micrognathia	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0009118	HP:0000347	Micrognathia	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0009118	HP:0000347	Micrognathia	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0009118	HP:0000347	Micrognathia	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0009118	HP:0000347	Micrognathia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0009118	HP:0000347	Micrognathia	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0009118	HP:0000347	Micrognathia	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.		146
HP:0009118	HP:0000347	Micrognathia	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0009118	HP:0000347	Micrognathia	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0009118	HP:0000347	Micrognathia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0009118	HP:0000347	Micrognathia	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0009118	HP:0000347	Micrognathia	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0009118	HP:0000347	Micrognathia	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0009118	HP:0000347	Micrognathia	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0009118	HP:0000347	Micrognathia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0009118	HP:0000347	Micrognathia	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0009118	HP:0000347	Micrognathia	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0009118	HP:0000347	Micrognathia	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0009118	HP:0000347	Micrognathia	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0009118	HP:0000347	Micrognathia	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0009118	HP:0000347	Micrognathia	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0009118	HP:0000347	Micrognathia	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0009118	HP:0000347	Micrognathia	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0009118	HP:0000347	Micrognathia	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0009118	HP:0000347	Micrognathia	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:0009118	HP:0000347	Micrognathia	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0009118	HP:0000347	Micrognathia	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0009118	HP:0000347	Micrognathia	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0009118	HP:0000347	Micrognathia	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		6
HP:0009118	HP:0000347	Micrognathia	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0009118	HP:0000347	Micrognathia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0009118	HP:0000347	Micrognathia	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0009118	HP:0000347	Micrognathia	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0009118	HP:0000347	Micrognathia	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	HP:0040283 - Occasional		9
HP:0009118	HP:0000347	Micrognathia	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0009118	HP:0000347	Micrognathia	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.		16
HP:0009118	HP:0000347	Micrognathia	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0009118	HP:0000347	Micrognathia	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0009118	HP:0000347	Micrognathia	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0009118	HP:0000347	Micrognathia	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0009118	HP:0000347	Micrognathia	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0009118	HP:0000347	Micrognathia	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0009118	HP:0000347	Micrognathia	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent		215
HP:0009118	HP:0000347	Micrognathia	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0009118	HP:0000347	Micrognathia	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0009118	HP:0000347	Micrognathia	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0009118	HP:0000347	Micrognathia	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.		215
HP:0009118	HP:0000347	Micrognathia	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		222
HP:0009118	HP:0000347	Micrognathia	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.		222
HP:0009118	HP:0000347	Micrognathia	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0009118	HP:0000347	Micrognathia	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		222
HP:0009118	HP:0000347	Micrognathia	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0009118	HP:0000347	Micrognathia	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0009118	HP:0000347	Micrognathia	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0009118	HP:0000347	Micrognathia	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0009118	HP:0000347	Micrognathia	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0009118	HP:0000347	Micrognathia	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0009118	HP:0000347	Micrognathia	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0009118	HP:0000347	Micrognathia	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0009118	HP:0000347	Micrognathia	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		284
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent		284
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0009118	HP:0000347	Micrognathia	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0009118	HP:0000347	Micrognathia	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent		749
HP:0009118	HP:0000347	Micrognathia	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0009118	HP:0000347	Micrognathia	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0009118	HP:0000347	Micrognathia	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0009118	HP:0000347	Micrognathia	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0009118	HP:0000347	Micrognathia	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0009118	HP:0000347	Micrognathia	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0009118	HP:0000347	Micrognathia	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0009118	HP:0000347	Micrognathia	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0009118	HP:0000347	Micrognathia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0009118	HP:0009939	Mandibular aplasia	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0009118	HP:0000347	Micrognathia	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0009118	HP:0000347	Micrognathia	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0009118	HP:0000347	Micrognathia	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0009118	HP:0000347	Micrognathia	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0009118	HP:0000347	Micrognathia	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0009118	HP:0000347	Micrognathia	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0009118	HP:0000347	Micrognathia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0009118	HP:0000347	Micrognathia	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0009118	HP:0000347	Micrognathia	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0009118	HP:0000347	Micrognathia	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040283 - Occasional		24
HP:0009118	HP:0000347	Micrognathia	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0009118	HP:0000347	Micrognathia	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009118	HP:0000347	Micrognathia	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0009118	HP:0000347	Micrognathia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0009118	HP:0000347	Micrognathia	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0009118	HP:0000347	Micrognathia	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0000347	Micrognathia	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0009118	HP:0000347	Micrognathia	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0009118	HP:0000347	Micrognathia	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0009118	HP:0000347	Micrognathia	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0009118	HP:0000347	Micrognathia	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0009118	HP:0000347	Micrognathia	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0009118	HP:0000347	Micrognathia	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0009118	HP:0000347	Micrognathia	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0009118	HP:0000347	Micrognathia	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0009118	HP:0000347	Micrognathia	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0009118	HP:0000347	Micrognathia	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0009118	HP:0000347	Micrognathia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0009118	HP:0000347	Micrognathia	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0009118	HP:0000347	Micrognathia	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0009118	HP:0000347	Micrognathia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0009118	HP:0000347	Micrognathia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0009118	HP:0000347	Micrognathia	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0009118	HP:0000347	Micrognathia	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent		59
HP:0009118	HP:0000347	Micrognathia	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0009118	HP:0000347	Micrognathia	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0009118	HP:0000347	Micrognathia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0009118	HP:0000347	Micrognathia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0009118	HP:0000347	Micrognathia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		79
HP:0009118	HP:0000347	Micrognathia	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0009118	HP:0000347	Micrognathia	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0009118	HP:0000347	Micrognathia	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0009118	HP:0000347	Micrognathia	1	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0009118	HP:0000347	Micrognathia	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0009118	HP:0000347	Micrognathia	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0009118	HP:0000347	Micrognathia	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0009118	HP:0000347	Micrognathia	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0009118	HP:0000347	Micrognathia	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0009118	HP:0000347	Micrognathia	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0009118	HP:0000347	Micrognathia	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0009118	HP:0000347	Micrognathia	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0009118	HP:0000347	Micrognathia	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0009118	HP:0000347	Micrognathia	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0009118	HP:0000347	Micrognathia	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0009118	HP:0000347	Micrognathia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0009118	HP:0000347	Micrognathia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0009118	HP:0000347	Micrognathia	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0009118	HP:0000347	Micrognathia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0009118	HP:0000347	Micrognathia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0009118	HP:0000347	Micrognathia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0009118	HP:0000347	Micrognathia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0009118	HP:0000347	Micrognathia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		4
HP:0009118	HP:0000347	Micrognathia	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0009118	HP:0000347	Micrognathia	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0009118	HP:0000347	Micrognathia	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0009118	HP:0000347	Micrognathia	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0009118	HP:0000347	Micrognathia	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.		6
HP:0009118	HP:0000347	Micrognathia	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0009118	HP:0000347	Micrognathia	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0009118	HP:0000347	Micrognathia	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.		45
HP:0009118	HP:0000347	Micrognathia	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0009118	HP:0000347	Micrognathia	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0009118	HP:0000347	Micrognathia	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0009118	HP:0000347	Micrognathia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0009118	HP:0000347	Micrognathia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0009118	HP:0000347	Micrognathia	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0009118	HP:0000347	Micrognathia	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0009118	HP:0000347	Micrognathia	1	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.		2
HP:0009118	HP:0000347	Micrognathia	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0009118	HP:0000347	Micrognathia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0009118	HP:0000347	Micrognathia	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0009118	HP:0000347	Micrognathia	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0009118	HP:0000347	Micrognathia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0009118	HP:0000347	Micrognathia	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0009118	HP:0000347	Micrognathia	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0009118	HP:0000347	Micrognathia	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0009118	HP:0000347	Micrognathia	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0009118	HP:0000347	Micrognathia	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0009118	HP:0000347	Micrognathia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0009118	HP:0000347	Micrognathia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0009118	HP:0000347	Micrognathia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0009118	HP:0000347	Micrognathia	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0009118	HP:0000347	Micrognathia	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0009118	HP:0000347	Micrognathia	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0009118	HP:0000347	Micrognathia	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0009118	HP:0000347	Micrognathia	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0009118	HP:0000347	Micrognathia	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0009118	HP:0000347	Micrognathia	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0009118	HP:0000347	Micrognathia	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		102
HP:0009118	HP:0000347	Micrognathia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		135
HP:0009118	HP:0000347	Micrognathia	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0009118	HP:0000347	Micrognathia	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0009118	HP:0009939	Mandibular aplasia	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0009118	HP:0000347	Micrognathia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0009118	HP:0000347	Micrognathia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0009118	HP:0000347	Micrognathia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0009118	HP:0000347	Micrognathia	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0009118	HP:0000347	Micrognathia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0009118	HP:0000347	Micrognathia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0009118	HP:0000347	Micrognathia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0009118	HP:0000347	Micrognathia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0009118	HP:0000347	Micrognathia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0009118	HP:0000347	Micrognathia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0009118	HP:0000347	Micrognathia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0009118	HP:0000347	Micrognathia	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0009118	HP:0000347	Micrognathia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0009118	HP:0000347	Micrognathia	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0009118	HP:0000347	Micrognathia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0009118	HP:0000347	Micrognathia	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0009118	HP:0000347	Micrognathia	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0009118	HP:0000347	Micrognathia	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0009118	HP:0000347	Micrognathia	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0009118	HP:0000347	Micrognathia	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0009118	HP:0000347	Micrognathia	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0009118	HP:0000347	Micrognathia	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0009118	HP:0000347	Micrognathia	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0009118	HP:0000347	Micrognathia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0009118	HP:0000347	Micrognathia	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent		18
HP:0009118	HP:0000347	Micrognathia	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0009118	HP:0000347	Micrognathia	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent		172
HP:0009118	HP:0000347	Micrognathia	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0009118	HP:0000347	Micrognathia	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0009118	HP:0000347	Micrognathia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0009118	HP:0000347	Micrognathia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0009118	HP:0000347	Micrognathia	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009118	HP:0000347	Micrognathia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0009118	HP:0000347	Micrognathia	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0009118	HP:0000347	Micrognathia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0009118	HP:0000347	Micrognathia	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0009118	HP:0000347	Micrognathia	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0009118	HP:0000347	Micrognathia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		493
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent		493
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0009118	HP:0000347	Micrognathia	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0009118	HP:0000347	Micrognathia	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0009118	HP:0000347	Micrognathia	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0009118	HP:0000347	Micrognathia	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0009118	HP:0000347	Micrognathia	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0009118	HP:0000347	Micrognathia	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0009118	HP:0000347	Micrognathia	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0009118	HP:0000347	Micrognathia	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0009118	HP:0000347	Micrognathia	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0009118	HP:0000347	Micrognathia	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0009118	HP:0000347	Micrognathia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0009118	HP:0000347	Micrognathia	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0009118	HP:0000347	Micrognathia	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0009118	HP:0000347	Micrognathia	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0009118	HP:0000347	Micrognathia	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009118	HP:0000347	Micrognathia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0009118	HP:0000347	Micrognathia	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0009118	HP:0000347	Micrognathia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0009118	HP:0000347	Micrognathia	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0009118	HP:0000347	Micrognathia	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0009118	HP:0000347	Micrognathia	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0009118	HP:0000347	Micrognathia	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0009118	HP:0000347	Micrognathia	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0009118	HP:0000347	Micrognathia	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040281 - Very frequent		45
HP:0009118	HP:0000347	Micrognathia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0009118	HP:0000347	Micrognathia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0009118	HP:0009939	Mandibular aplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0009118	HP:0000347	Micrognathia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0009118	HP:0000347	Micrognathia	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0009118	HP:0000347	Micrognathia	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0009118	HP:0000347	Micrognathia	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0009118	HP:0000347	Micrognathia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009118	HP:0000347	Micrognathia	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0009118	HP:0000347	Micrognathia	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0009118	HP:0000347	Micrognathia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0009118	HP:0000347	Micrognathia	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040282 - Frequent		99
HP:0009118	HP:0000347	Micrognathia	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0009118	HP:0000347	Micrognathia	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	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:0009118	HP:0000347	Micrognathia	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.		80
HP:0009118	HP:0000347	Micrognathia	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0009118	HP:0000347	Micrognathia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0009118	HP:0000347	Micrognathia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0009118	HP:0000347	Micrognathia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0009118	HP:0000347	Micrognathia	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009118	HP:0000347	Micrognathia	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0009118	HP:0000347	Micrognathia	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0009118	HP:0000347	Micrognathia	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0009118	HP:0009939	Mandibular aplasia	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0009118	HP:0000347	Micrognathia	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0009118	HP:0000347	Micrognathia	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0009118	HP:0000347	Micrognathia	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0009118	HP:0000347	Micrognathia	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0009118	HP:0000347	Micrognathia	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009118	HP:0000347	Micrognathia	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		6
HP:0009118	HP:0000347	Micrognathia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0009118	HP:0000347	Micrognathia	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0009118	HP:0000347	Micrognathia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009118	HP:0000347	Micrognathia	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0009118	HP:0000347	Micrognathia	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0009118	HP:0000347	Micrognathia	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0009118	HP:0000347	Micrognathia	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0009118	HP:0000347	Micrognathia	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0009118	HP:0000347	Micrognathia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0009118	HP:0000347	Micrognathia	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0009118	HP:0000347	Micrognathia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0009118	HP:0000347	Micrognathia	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0009118	HP:0000347	Micrognathia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0009118	HP:0000347	Micrognathia	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0009118	HP:0000347	Micrognathia	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0009118	HP:0000347	Micrognathia	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0009118	HP:0000347	Micrognathia	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0009118	HP:0000347	Micrognathia	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional		11
HP:0009118	HP:0000347	Micrognathia	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0009118	HP:0000347	Micrognathia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0009118	HP:0000347	Micrognathia	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:0009118	HP:0000347	Micrognathia	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0009118	HP:0000347	Micrognathia	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0009118	HP:0000347	Micrognathia	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0009118	HP:0000347	Micrognathia	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0009118	HP:0000347	Micrognathia	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent		53
HP:0009118	HP:0000347	Micrognathia	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0009118	HP:0000347	Micrognathia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009118	HP:0000347	Micrognathia	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0009118	HP:0000347	Micrognathia	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0009118	HP:0000347	Micrognathia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0009118	HP:0000347	Micrognathia	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent		99
HP:0009118	HP:0000347	Micrognathia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional		4
HP:0009118	HP:0000347	Micrognathia	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0009118	HP:0000347	Micrognathia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0009118	HP:0000347	Micrognathia	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0009118	HP:0000347	Micrognathia	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0009118	HP:0000347	Micrognathia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0009118	HP:0000347	Micrognathia	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0009118	HP:0000347	Micrognathia	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0009118	HP:0000347	Micrognathia	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0009118	HP:0000347	Micrognathia	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0009118	HP:0000347	Micrognathia	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0009118	HP:0000347	Micrognathia	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0009118	HP:0000347	Micrognathia	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent		193
HP:0009118	HP:0000347	Micrognathia	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent		128
HP:0009118	HP:0000347	Micrognathia	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0009118	HP:0000347	Micrognathia	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0009118	HP:0000347	Micrognathia	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0009118	HP:0000347	Micrognathia	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0009118	HP:0000347	Micrognathia	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009118	HP:0000347	Micrognathia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0009118	HP:0000347	Micrognathia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0009118	HP:0000347	Micrognathia	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0009118	HP:0000347	Micrognathia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0009118	HP:0000347	Micrognathia	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0009118	HP:0000347	Micrognathia	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional		9
HP:0009118	HP:0000347	Micrognathia	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0009118	HP:0000347	Micrognathia	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0009118	HP:0000347	Micrognathia	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.		167
HP:0009118	HP:0000347	Micrognathia	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0009118	HP:0000347	Micrognathia	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0009118	HP:0000347	Micrognathia	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0009118	HP:0000347	Micrognathia	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0009118	HP:0000347	Micrognathia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0009118	HP:0000347	Micrognathia	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0009118	HP:0000347	Micrognathia	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0009118	HP:0000347	Micrognathia	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0009118	HP:0000347	Micrognathia	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0009118	HP:0000347	Micrognathia	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0009118	HP:0000347	Micrognathia	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0009118	HP:0000347	Micrognathia	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent		70
HP:0009118	HP:0000347	Micrognathia	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0009118	HP:0000347	Micrognathia	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0009118	HP:0000347	Micrognathia	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0009118	HP:0000347	Micrognathia	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0009118	HP:0000347	Micrognathia	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0009118	HP:0000347	Micrognathia	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0009118	HP:0000347	Micrognathia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0009118	HP:0000347	Micrognathia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0009118	HP:0000347	Micrognathia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		88
HP:0009118	HP:0000347	Micrognathia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0009118	HP:0000347	Micrognathia	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0009118	HP:0000347	Micrognathia	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0009118	HP:0000347	Micrognathia	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.		124
HP:0009118	HP:0000347	Micrognathia	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0009118	HP:0000347	Micrognathia	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0009118	HP:0000347	Micrognathia	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0009118	HP:0000347	Micrognathia	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0009118	HP:0000347	Micrognathia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0009118	HP:0000347	Micrognathia	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0009118	HP:0000347	Micrognathia	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent		63
HP:0009118	HP:0000347	Micrognathia	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0009118	HP:0000347	Micrognathia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009118	HP:0000347	Micrognathia	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0009118	HP:0000347	Micrognathia	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		11
HP:0009118	HP:0000347	Micrognathia	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0009118	HP:0000347	Micrognathia	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009118	HP:0000347	Micrognathia	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0009118	HP:0000347	Micrognathia	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0009118	HP:0000347	Micrognathia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0009118	HP:0000347	Micrognathia	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0009118	HP:0000347	Micrognathia	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0009118	HP:0000347	Micrognathia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.		950
HP:0009118	HP:0000347	Micrognathia	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0009118	HP:0000347	Micrognathia	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0009118	HP:0000347	Micrognathia	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0009118	HP:0000347	Micrognathia	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0009118	HP:0000347	Micrognathia	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0009118	HP:0000347	Micrognathia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0009118	HP:0000347	Micrognathia	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0009118	HP:0000347	Micrognathia	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.		91
HP:0009118	HP:0000347	Micrognathia	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0009118	HP:0000347	Micrognathia	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0009118	HP:0000347	Micrognathia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0009118	HP:0000347	Micrognathia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0009118	HP:0000347	Micrognathia	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0009118	HP:0000347	Micrognathia	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009118	HP:0000347	Micrognathia	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0009118	HP:0000347	Micrognathia	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0009118	HP:0000347	Micrognathia	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0009118	HP:0000347	Micrognathia	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0009118	HP:0000347	Micrognathia	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent		35
HP:0009118	HP:0000347	Micrognathia	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0009118	HP:0000347	Micrognathia	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		166
HP:0009118	HP:0000347	Micrognathia	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0009118	HP:0000347	Micrognathia	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0009118	HP:0000347	Micrognathia	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0009118	HP:0000347	Micrognathia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0009118	HP:0000347	Micrognathia	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent		5
HP:0009118	HP:0000347	Micrognathia	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0009118	HP:0000347	Micrognathia	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0009118	HP:0000347	Micrognathia	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0009118	HP:0000347	Micrognathia	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0009118	HP:0000347	Micrognathia	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0009118	HP:0000347	Micrognathia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0009118	HP:0000347	Micrognathia	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0009118	HP:0000347	Micrognathia	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0009118	HP:0000347	Micrognathia	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0009118	HP:0000347	Micrognathia	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		48
HP:0009118	HP:0000347	Micrognathia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0009118	HP:0000347	Micrognathia	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0009118	HP:0000347	Micrognathia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0009118	HP:0000347	Micrognathia	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0009118	HP:0000347	Micrognathia	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0009118	HP:0009939	Mandibular aplasia	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0009118	HP:0000347	Micrognathia	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0009118	HP:0000347	Micrognathia	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0009118	HP:0000347	Micrognathia	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0009118	HP:0000347	Micrognathia	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0009118	HP:0000347	Micrognathia	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0009118	HP:0000347	Micrognathia	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0009118	HP:0000347	Micrognathia	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0009118	HP:0000347	Micrognathia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0009118	HP:0000347	Micrognathia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0009118	HP:0000347	Micrognathia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0009118	HP:0000347	Micrognathia	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0009118	HP:0000347	Micrognathia	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0009118	HP:0000347	Micrognathia	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0009118	HP:0000347	Micrognathia	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0009118	HP:0000347	Micrognathia	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0009118	HP:0000347	Micrognathia	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0009118	HP:0000347	Micrognathia	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0009118	HP:0000347	Micrognathia	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0009118	HP:0000347	Micrognathia	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0009118	HP:0000347	Micrognathia	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0009118	HP:0000347	Micrognathia	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0009118	HP:0000347	Micrognathia	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0009118	HP:0000347	Micrognathia	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional		34
HP:0009118	HP:0000347	Micrognathia	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0009118	HP:0000347	Micrognathia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0009118	HP:0000347	Micrognathia	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		5
HP:0009118	HP:0000347	Micrognathia	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0009118	HP:0000347	Micrognathia	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0009118	HP:0000347	Micrognathia	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		1
HP:0009118	HP:0000347	Micrognathia	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0009118	HP:0000347	Micrognathia	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0009118	HP:0000347	Micrognathia	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0009118	HP:0000347	Micrognathia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0009118	HP:0000347	Micrognathia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0009118	HP:0000347	Micrognathia	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0009118	HP:0000347	Micrognathia	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0009118	HP:0000347	Micrognathia	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0009118	HP:0009939	Mandibular aplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0009118	HP:0000347	Micrognathia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0009118	HP:0000347	Micrognathia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0009118	HP:0000347	Micrognathia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0009118	HP:0009939	Mandibular aplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0009118	HP:0000347	Micrognathia	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0009118	HP:0009939	Mandibular aplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0009118	HP:0000347	Micrognathia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0009118	HP:0000347	Micrognathia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0009118	HP:0000347	Micrognathia	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0009118	HP:0000347	Micrognathia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0009118	HP:0009939	Mandibular aplasia	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0009118	HP:0000347	Micrognathia	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0009118	HP:0000347	Micrognathia	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0009118	HP:0000347	Micrognathia	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0009118	HP:0000347	Micrognathia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0009118	HP:0000347	Micrognathia	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0009118	HP:0000347	Micrognathia	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0009118	HP:0000347	Micrognathia	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0009118	HP:0000347	Micrognathia	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0009118	HP:0000347	Micrognathia	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0009118	HP:0000347	Micrognathia	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0009118	HP:0000347	Micrognathia	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0009118	HP:0000347	Micrognathia	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0009118	HP:0000347	Micrognathia	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0009118	HP:0000347	Micrognathia	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0009118	HP:0000347	Micrognathia	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0009118	HP:0000347	Micrognathia	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0009118	HP:0000347	Micrognathia	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0009118	HP:0000347	Micrognathia	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0009118	HP:0000347	Micrognathia	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0009118	HP:0000347	Micrognathia	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0009118	HP:0000347	Micrognathia	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0009118	HP:0000347	Micrognathia	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0009118	HP:0000347	Micrognathia	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0009118	HP:0000347	Micrognathia	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0009118	HP:0000347	Micrognathia	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0009118	HP:0000347	Micrognathia	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0009118	HP:0000347	Micrognathia	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0009118	HP:0000347	Micrognathia	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0009118	HP:0000347	Micrognathia	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0009118	HP:0000347	Micrognathia	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0009118	HP:0000347	Micrognathia	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0009118	HP:0000347	Micrognathia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0009118	HP:0000347	Micrognathia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0009118	HP:0000347	Micrognathia	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional		58
HP:0009118	HP:0000347	Micrognathia	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0009118	HP:0000347	Micrognathia	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0009118	HP:0000347	Micrognathia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0009118	HP:0000347	Micrognathia	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0009118	HP:0000347	Micrognathia	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.		11
HP:0009118	HP:0000347	Micrognathia	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0009118	HP:0000347	Micrognathia	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0009118	HP:0000347	Micrognathia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0009118	HP:0000347	Micrognathia	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0009118	HP:0000347	Micrognathia	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0009118	HP:0000347	Micrognathia	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009118	HP:0000347	Micrognathia	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009118	HP:0000347	Micrognathia	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0009118	HP:0000347	Micrognathia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0009118	HP:0000347	Micrognathia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0009118	HP:0000347	Micrognathia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0009118	HP:0000347	Micrognathia	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0009118	HP:0000347	Micrognathia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0009118	HP:0000347	Micrognathia	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0009118	HP:0000347	Micrognathia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0009118	HP:0000347	Micrognathia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0009118	HP:0000347	Micrognathia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0009118	HP:0000347	Micrognathia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0009118	HP:0000347	Micrognathia	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0009118	HP:0000347	Micrognathia	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009118	HP:0000347	Micrognathia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		563
HP:0009118	HP:0000347	Micrognathia	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0009118	HP:0000347	Micrognathia	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0009118	HP:0000347	Micrognathia	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0009118	HP:0000347	Micrognathia	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0009118	HP:0000347	Micrognathia	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0009118	HP:0000347	Micrognathia	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0009118	HP:0000347	Micrognathia	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0009118	HP:0000347	Micrognathia	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0009118	HP:0000347	Micrognathia	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0009118	HP:0000347	Micrognathia	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0009118	HP:0000347	Micrognathia	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0009118	HP:0000347	Micrognathia	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0009118	HP:0000347	Micrognathia	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0009118	HP:0000347	Micrognathia	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.		38
HP:0009118	HP:0000347	Micrognathia	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		38
HP:0009118	HP:0000347	Micrognathia	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.		31
HP:0009118	HP:0000347	Micrognathia	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		31
HP:0009118	HP:0000347	Micrognathia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0009118	HP:0000347	Micrognathia	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0009118	HP:0000347	Micrognathia	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0009118	HP:0000347	Micrognathia	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0009118	HP:0000347	Micrognathia	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0009118	HP:0000347	Micrognathia	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0009118	HP:0000347	Micrognathia	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0009118	HP:0000347	Micrognathia	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0009118	HP:0000347	Micrognathia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0009118	HP:0000347	Micrognathia	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0009118	HP:0000347	Micrognathia	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0009118	HP:0000347	Micrognathia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0009118	HP:0009939	Mandibular aplasia	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0009118	HP:0000347	Micrognathia	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0009118	HP:0009939	Mandibular aplasia	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0009118	HP:0000347	Micrognathia	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0009118	HP:0000347	Micrognathia	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0009118	HP:0000347	Micrognathia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0009118	HP:0000347	Micrognathia	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0009118	HP:0000347	Micrognathia	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0009118	HP:0000347	Micrognathia	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0009118	HP:0000347	Micrognathia	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0009118	HP:0000347	Micrognathia	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0009118	HP:0000347	Micrognathia	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0009118	HP:0000347	Micrognathia	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0009118	HP:0000347	Micrognathia	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0009118	HP:0000347	Micrognathia	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0009118	HP:0000347	Micrognathia	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0009118	HP:0000347	Micrognathia	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0009118	HP:0000347	Micrognathia	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0009118	HP:0000347	Micrognathia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0009118	HP:0000347	Micrognathia	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0009118	HP:0000347	Micrognathia	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		57
HP:0009118	HP:0000347	Micrognathia	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0009118	HP:0000347	Micrognathia	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0009118	HP:0000347	Micrognathia	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0009118	HP:0000347	Micrognathia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0009118	HP:0000347	Micrognathia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0009118	HP:0000347	Micrognathia	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		90
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		135
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0009118	HP:0000347	Micrognathia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0009118	HP:0000347	Micrognathia	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0009118	HP:0000347	Micrognathia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0009118	HP:0000347	Micrognathia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0009118	HP:0000347	Micrognathia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0009118	HP:0000347	Micrognathia	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0009118	HP:0000347	Micrognathia	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0009118	HP:0000347	Micrognathia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0009118	HP:0000347	Micrognathia	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0009118	HP:0000347	Micrognathia	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0009118	HP:0000347	Micrognathia	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.		9
HP:0009118	HP:0000347	Micrognathia	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0009118	HP:0000347	Micrognathia	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0009118	HP:0000347	Micrognathia	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0009118	HP:0000347	Micrognathia	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.		68
HP:0009118	HP:0000347	Micrognathia	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0009118	HP:0000347	Micrognathia	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0009118	HP:0000347	Micrognathia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0009118	HP:0000347	Micrognathia	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0009118	HP:0000347	Micrognathia	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0009118	HP:0000347	Micrognathia	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0009118	HP:0000347	Micrognathia	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0009118	HP:0000347	Micrognathia	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0009118	HP:0000347	Micrognathia	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0009118	HP:0000347	Micrognathia	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0009118	HP:0000347	Micrognathia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0009118	HP:0000347	Micrognathia	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0009118	HP:0000347	Micrognathia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0009118	HP:0000347	Micrognathia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0009118	HP:0000347	Micrognathia	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0009118	HP:0000347	Micrognathia	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent		69
HP:0009118	HP:0000347	Micrognathia	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0009118	HP:0000347	Micrognathia	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0009118	HP:0000347	Micrognathia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0009118	HP:0000347	Micrognathia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0009118	HP:0000347	Micrognathia	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0009118	HP:0000347	Micrognathia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0009118	HP:0000347	Micrognathia	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0009118	HP:0000347	Micrognathia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0009118	HP:0000347	Micrognathia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0009118	HP:0000347	Micrognathia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0009118	HP:0000347	Micrognathia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0009118	HP:0000347	Micrognathia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0009118	HP:0000347	Micrognathia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0009118	HP:0000347	Micrognathia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0009118	HP:0000347	Micrognathia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009118	HP:0000347	Micrognathia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0009118	HP:0000347	Micrognathia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0009118	HP:0000347	Micrognathia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009118	HP:0000347	Micrognathia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009118	HP:0000347	Micrognathia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0009118	HP:0000347	Micrognathia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0009118	HP:0000347	Micrognathia	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0009118	HP:0000347	Micrognathia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0009118	HP:0000347	Micrognathia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0009118	HP:0000347	Micrognathia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0009118	HP:0000347	Micrognathia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0009118	HP:0000347	Micrognathia	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0009118	HP:0000347	Micrognathia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0009118	HP:0000347	Micrognathia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0009118	HP:0000347	Micrognathia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0009118	HP:0000347	Micrognathia	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0009118	HP:0000347	Micrognathia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0009118	HP:0000347	Micrognathia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0009118	HP:0000347	Micrognathia	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0009118	HP:0000347	Micrognathia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0009118	HP:0000347	Micrognathia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0009118	HP:0000347	Micrognathia	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0009118	HP:0000347	Micrognathia	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0009118	HP:0000347	Micrognathia	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0009118	HP:0000347	Micrognathia	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0009118	HP:0000347	Micrognathia	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0009118	HP:0000347	Micrognathia	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0009118	HP:0000347	Micrognathia	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0009118	HP:0000347	Micrognathia	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0009118	HP:0000347	Micrognathia	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0009118	HP:0000347	Micrognathia	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0009118	HP:0000347	Micrognathia	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0009118	HP:0000347	Micrognathia	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0009118	HP:0000347	Micrognathia	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0009118	HP:0000347	Micrognathia	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0009118	HP:0000347	Micrognathia	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		5
HP:0009118	HP:0000347	Micrognathia	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0009118	HP:0000347	Micrognathia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0009118	HP:0000347	Micrognathia	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0009118	HP:0000347	Micrognathia	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0009118	HP:0000347	Micrognathia	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0009118	HP:0000347	Micrognathia	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0009118	HP:0000347	Micrognathia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0009118	HP:0000347	Micrognathia	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0009118	HP:0000347	Micrognathia	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0009118	HP:0000347	Micrognathia	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0009118	HP:0000347	Micrognathia	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0009118	HP:0000347	Micrognathia	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0009118	HP:0000347	Micrognathia	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent		49
HP:0009118	HP:0000347	Micrognathia	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0009118	HP:0000347	Micrognathia	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0009118	HP:0000347	Micrognathia	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.		66
HP:0009118	HP:0000347	Micrognathia	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0009118	HP:0000347	Micrognathia	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0009118	HP:0000347	Micrognathia	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0009118	HP:0000347	Micrognathia	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		50
HP:0009118	HP:0000347	Micrognathia	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0009118	HP:0000347	Micrognathia	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0009118	HP:0000347	Micrognathia	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0009118	HP:0000347	Micrognathia	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0000347	Micrognathia	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0009118	HP:0000347	Micrognathia	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0009118	HP:0000347	Micrognathia	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0009118	HP:0000347	Micrognathia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009118	HP:0000347	Micrognathia	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0009118	HP:0000347	Micrognathia	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0009118	HP:0000347	Micrognathia	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.		166
HP:0009118	HP:0000347	Micrognathia	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040283 - Occasional		166
HP:0009118	HP:0000347	Micrognathia	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0009118	HP:0000347	Micrognathia	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0009118	HP:0000347	Micrognathia	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0009118	HP:0000347	Micrognathia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0009118	HP:0000347	Micrognathia	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0009118	HP:0000347	Micrognathia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0009118	HP:0000347	Micrognathia	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional		274
HP:0009118	HP:0000347	Micrognathia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0009118	HP:0000347	Micrognathia	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0009118	HP:0000347	Micrognathia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0009118	HP:0000347	Micrognathia	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0009118	HP:0000347	Micrognathia	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0009118	HP:0000347	Micrognathia	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0009118	HP:0000347	Micrognathia	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
HP:0009118	HP:0000347	Micrognathia	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0000347	Micrognathia	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0009118	HP:0000347	Micrognathia	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040281 - Very frequent		6
HP:0009118	HP:0000347	Micrognathia	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0009118	HP:0000347	Micrognathia	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0009118	HP:0000347	Micrognathia	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0009118	HP:0000347	Micrognathia	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0009118	HP:0000347	Micrognathia	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0009118	HP:0000347	Micrognathia	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0009118	HP:0000347	Micrognathia	1	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040281 - Very frequent		109
HP:0009118	HP:0000347	Micrognathia	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0009118	HP:0000347	Micrognathia	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0009118	HP:0000347	Micrognathia	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0009118	HP:0000347	Micrognathia	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0009118	HP:0000347	Micrognathia	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0009118	HP:0000347	Micrognathia	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0009118	HP:0000347	Micrognathia	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0009118	HP:0000347	Micrognathia	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0009118	HP:0000347	Micrognathia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0009118	HP:0000347	Micrognathia	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0009118	HP:0000347	Micrognathia	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.		12
HP:0009118	HP:0000347	Micrognathia	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0009118	HP:0000347	Micrognathia	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional		14
HP:0009118	HP:0000347	Micrognathia	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0009118	HP:0000347	Micrognathia	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0009118	HP:0000347	Micrognathia	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0009118	HP:0000347	Micrognathia	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0009118	HP:0000347	Micrognathia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0009118	HP:0000347	Micrognathia	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0009118	HP:0000347	Micrognathia	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0009118	HP:0000347	Micrognathia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0009118	HP:0000347	Micrognathia	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0009118	HP:0000347	Micrognathia	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0009118	HP:0000347	Micrognathia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0009118	HP:0000347	Micrognathia	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009118	HP:0000347	Micrognathia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0009118	HP:0000347	Micrognathia	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0009118	HP:0000347	Micrognathia	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0009118	HP:0000347	Micrognathia	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0009118	HP:0000347	Micrognathia	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0009118	HP:0000347	Micrognathia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0009118	HP:0000347	Micrognathia	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0009118	HP:0000347	Micrognathia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0009118	HP:0000347	Micrognathia	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0009118	HP:0000347	Micrognathia	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.		55
HP:0009118	HP:0000347	Micrognathia	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0009118	HP:0000347	Micrognathia	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		140
HP:0009118	HP:0000347	Micrognathia	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0009118	HP:0000347	Micrognathia	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0009118	HP:0000347	Micrognathia	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0009118	HP:0000347	Micrognathia	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.		31
HP:0009118	HP:0000347	Micrognathia	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0009118	HP:0000347	Micrognathia	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0009118	HP:0000347	Micrognathia	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0009118	HP:0000347	Micrognathia	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0009118	HP:0000347	Micrognathia	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0009118	HP:0000347	Micrognathia	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040281 - Very frequent		6
HP:0009118	HP:0000347	Micrognathia	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0009118	HP:0000347	Micrognathia	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0009118	HP:0000347	Micrognathia	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0009118	HP:0000347	Micrognathia	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0009118	HP:0000347	Micrognathia	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	.		253
HP:0009118	HP:0000347	Micrognathia	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0009118	HP:0000347	Micrognathia	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0009118	HP:0000347	Micrognathia	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0009118	HP:0000347	Micrognathia	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0009118	HP:0000347	Micrognathia	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0009118	HP:0000347	Micrognathia	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0009118	HP:0000347	Micrognathia	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0009118	HP:0000347	Micrognathia	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0009118	HP:0000347	Micrognathia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0009118	HP:0000347	Micrognathia	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0009118	HP:0000347	Micrognathia	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0009118	HP:0000347	Micrognathia	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		37
HP:0009118	HP:0000347	Micrognathia	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		43
HP:0009118	HP:0000347	Micrognathia	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0009118	HP:0000347	Micrognathia	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0009118	HP:0000347	Micrognathia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0009118	HP:0000347	Micrognathia	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0009118	HP:0000347	Micrognathia	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0009118	HP:0000347	Micrognathia	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0009118	HP:0000347	Micrognathia	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0009118	HP:0000347	Micrognathia	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		54
HP:0009118	HP:0000347	Micrognathia	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0009118	HP:0000347	Micrognathia	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0009118	HP:0000347	Micrognathia	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0009118	HP:0000347	Micrognathia	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0009118	HP:0000347	Micrognathia	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0009118	HP:0000347	Micrognathia	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0009118	HP:0000347	Micrognathia	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0009118	HP:0000347	Micrognathia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0000347	Micrognathia	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0009118	HP:0000347	Micrognathia	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0009118	HP:0000347	Micrognathia	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0009118	HP:0000347	Micrognathia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0009118	HP:0000347	Micrognathia	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040283 - Occasional		102
HP:0009118	HP:0000347	Micrognathia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0009118	HP:0000347	Micrognathia	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0009118	HP:0000347	Micrognathia	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0009118	HP:0000347	Micrognathia	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0009118	HP:0000347	Micrognathia	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0009118	HP:0000347	Micrognathia	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0009118	HP:0000347	Micrognathia	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional		14
HP:0009118	HP:0000347	Micrognathia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0009118	HP:0000347	Micrognathia	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0009118	HP:0000347	Micrognathia	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0009118	HP:0000347	Micrognathia	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0009118	HP:0000347	Micrognathia	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0009118	HP:0000347	Micrognathia	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0009118	HP:0000347	Micrognathia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0009118	HP:0000347	Micrognathia	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0009118	HP:0000347	Micrognathia	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0009118	HP:0000347	Micrognathia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0009118	HP:0000347	Micrognathia	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0009118	HP:0000347	Micrognathia	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0009118	HP:0000347	Micrognathia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0009118	HP:0000347	Micrognathia	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0009118	HP:0000347	Micrognathia	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0009118	HP:0000347	Micrognathia	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0009118	HP:0000347	Micrognathia	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0009118	HP:0000347	Micrognathia	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0009118	HP:0000347	Micrognathia	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009118	HP:0000347	Micrognathia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0009118	HP:0000347	Micrognathia	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0009118	HP:0000347	Micrognathia	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0009118	HP:0000347	Micrognathia	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0009118	HP:0000347	Micrognathia	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0009118	HP:0000347	Micrognathia	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0009118	HP:0000347	Micrognathia	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0009118	HP:0000347	Micrognathia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0009118	HP:0000347	Micrognathia	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0009118	HP:0000347	Micrognathia	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0009118	HP:0000347	Micrognathia	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		14
HP:0009118	HP:0000347	Micrognathia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0009118	HP:0000347	Micrognathia	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0009118	HP:0000347	Micrognathia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0009118	HP:0000347	Micrognathia	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0009118	HP:0000347	Micrognathia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0009118	HP:0000347	Micrognathia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0009118	HP:0000347	Micrognathia	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent		13
HP:0009118	HP:0000347	Micrognathia	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0009118	HP:0000347	Micrognathia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0009118	HP:0000347	Micrognathia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		9
HP:0009118	HP:0000347	Micrognathia	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		9
HP:0009118	HP:0000347	Micrognathia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009118	HP:0000347	Micrognathia	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		45
HP:0009118	HP:0000347	Micrognathia	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0009118	HP:0000347	Micrognathia	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0009118	HP:0000347	Micrognathia	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0009118	HP:0000347	Micrognathia	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0009118	HP:0000347	Micrognathia	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		9
HP:0009118	HP:0000347	Micrognathia	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0009118	HP:0000347	Micrognathia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0009118	HP:0000347	Micrognathia	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0009118	HP:0000347	Micrognathia	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009118	HP:0000347	Micrognathia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0009118	HP:0000347	Micrognathia	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0009118	HP:0000347	Micrognathia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0009118	HP:0000347	Micrognathia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0009118	HP:0000347	Micrognathia	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0009118	HP:0000347	Micrognathia	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0009118	HP:0000347	Micrognathia	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0009118	HP:0000347	Micrognathia	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.		1
HP:0009118	HP:0000347	Micrognathia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009118	HP:0000308	Microretrognathia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0009118	HP:0000308	Microretrognathia	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0009118	HP:0000308	Microretrognathia	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0009118	HP:0000308	Microretrognathia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0009118	HP:0000308	Microretrognathia	2	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:0009118	HP:0000308	Microretrognathia	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0009118	HP:0000308	Microretrognathia	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0009118	HP:0000308	Microretrognathia	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0009118	HP:0000308	Microretrognathia	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0009118	HP:0000308	Microretrognathia	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0009118	HP:0000308	Microretrognathia	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0009118	HP:0000308	Microretrognathia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0009118	HP:0000308	Microretrognathia	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	HP:0003593 - Infantile onset	27
HP:0009118	HP:0000308	Microretrognathia	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0009118	HP:0000308	Microretrognathia	2	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:0009118	HP:0000308	Microretrognathia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0009118	HP:0000308	Microretrognathia	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0009118	HP:0000308	Microretrognathia	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0009118	HP:0000308	Microretrognathia	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0009118	HP:0000308	Microretrognathia	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009118	HP:0000308	Microretrognathia	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0009118	HP:0000308	Microretrognathia	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0009118	HP:0000308	Microretrognathia	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0009118	HP:0000308	Microretrognathia	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0009118	HP:0003778	Short mandibular rami	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0009118	HP:0000308	Microretrognathia	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0009118	HP:0000308	Microretrognathia	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0009118	HP:0000308	Microretrognathia	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0009118	HP:0000308	Microretrognathia	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0009118	HP:0000308	Microretrognathia	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0009118	HP:0003778	Short mandibular rami	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0009118	HP:0003778	Short mandibular rami	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0009118	HP:0003778	Short mandibular rami	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0009118	HP:0000308	Microretrognathia	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0009118	HP:0000308	Microretrognathia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0009118	HP:0000308	Microretrognathia	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0009118	HP:0000308	Microretrognathia	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0009118	HP:0000308	Microretrognathia	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0009118	HP:0003778	Short mandibular rami	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0009118	HP:0000308	Microretrognathia	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0009118	HP:0000308	Microretrognathia	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0009118	HP:0000308	Microretrognathia	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0009118	HP:0000308	Microretrognathia	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0009118	HP:0000308	Microretrognathia	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		1269
HP:0009118	HP:0000308	Microretrognathia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0009118	HP:0000308	Microretrognathia	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0009118	HP:0000308	Microretrognathia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0009118	HP:0000308	Microretrognathia	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0009118	HP:0000308	Microretrognathia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0009118	HP:0003778	Short mandibular rami	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0009118	HP:0000308	Microretrognathia	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0009118	HP:0000308	Microretrognathia	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0009118	HP:0000308	Microretrognathia	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0009118	HP:0000308	Microretrognathia	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0009118	HP:0000308	Microretrognathia	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0009118	HP:0000308	Microretrognathia	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0009118	HP:0000308	Microretrognathia	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0009118	HP:0003778	Short mandibular rami	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0009118	HP:0003778	Short mandibular rami	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0009118	HP:0000308	Microretrognathia	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0009118	HP:0000308	Microretrognathia	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0009118	HP:0000308	Microretrognathia	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0009118	HP:0000308	Microretrognathia	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0009118	HP:0000308	Microretrognathia	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0009118	HP:0000308	Microretrognathia	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0009118	HP:0000308	Microretrognathia	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0009118	HP:0000308	Microretrognathia	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0009118	HP:0000308	Microretrognathia	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0009118	HP:0000308	Microretrognathia	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0009118	HP:0000308	Microretrognathia	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0009118	HP:0000308	Microretrognathia	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		144
HP:0009118	HP:0000308	Microretrognathia	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0009118	HP:0000308	Microretrognathia	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent		49
HP:0009118	HP:0000308	Microretrognathia	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0009118	HP:0000308	Microretrognathia	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0009118	HP:0000308	Microretrognathia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0009118	HP:0000308	Microretrognathia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0009118	HP:0000308	Microretrognathia	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0009118	HP:0000308	Microretrognathia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0009118	HP:0000308	Microretrognathia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0009118	HP:0000308	Microretrognathia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0009118	HP:0000308	Microretrognathia	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0009118	HP:0410219	Hypoplasia of mandible relative to maxilla	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0009118	HP:0000308	Microretrognathia	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009118	HP:0000308	Microretrognathia	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0009118	HP:0000308	Microretrognathia	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0009118	HP:0000308	Microretrognathia	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0009118	HP:0000308	Microretrognathia	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		7128
HP:0009118	HP:0000308	Microretrognathia	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0009118	HP:0000308	Microretrognathia	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0009118	HP:0000308	Microretrognathia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0009118	HP:0000308	Microretrognathia	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009118	HP:0000308	Microretrognathia	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0009118	HP:0005790	Short mandibular condyles	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0009118	HP:0005790	Short mandibular condyles	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0009118	HP:0005790	Short mandibular condyles	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0009118	HP:0005790	Short mandibular condyles	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0009118	HP:0005790	Short mandibular condyles	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0009118	HP:0007627	Mandibular condyle aplasia	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		6
HP:0009118	HP:0007628	Mandibular condyle hypoplasia	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		6
HP:0009118	HP:0007627	Mandibular condyle aplasia	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		2
HP:0009118	HP:0007628	Mandibular condyle hypoplasia	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		2
HP:0009118	HP:0007628	Mandibular condyle hypoplasia	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0009118	HP:0007627	Mandibular condyle aplasia	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0009118	HP:0007627	Mandibular condyle aplasia	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		82
HP:0009118	HP:0007628	Mandibular condyle hypoplasia	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		82
HP:0009118	HP:0007627	Mandibular condyle aplasia	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0009118	HP:0007628	Mandibular condyle hypoplasia	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82

Genes (782) :ABCD4 ACTA1 ACTB ACTG1 ACTG2 ADA2 ADAMTS2 ADAMTSL2 ADAT3 ADGRG1 ADGRG6 AEBP1 AFF3 AFF4 AGRN AHDC1 AKT1 ALDH1A2 ALG1 ALG12 ALG13 ALG14 ALG9 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKLE2 ANKRD11 ANTXR1 APC ARCN1 ARID1B ARID2 ARL6IP6 ARVCF ARX ASNS ASXL1 ASXL3 ATAD3A ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAZ1B BCL11B BCL7B BDNF BICD2 BICRA BLM BMP4 BMPER BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12ORF57 C1R C1S C2CD3 CA2 CACNA1C CAMTA1 CANT1 CARS1 CASK CBL CC2D2A CCDC22 CCDC32 CD96 CDC42BPB CDC45 CDC6 CDCA7 CDK5 CDKN1C CDT1 CENPE CENPF CENPJ CEP120 CEP152 CEP290 CEP55 CEP57 CFL2 CHAT CHD5 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLIP2 CLPB CLTCL1 CNOT2 CNTNAP1 COASY COG1 COG4 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMT COX7B CPE CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRLF1 CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTDP1 CTNND2 CTSK CTU2 CWC27 D2HGDH DCHS1 DDR2 DEAF1 DHCR24 DHCR7 DHODH DIS3L2 DLK1 DNA2 DNAJC21 DNAJC30 DNMT3B DOCK6 DOK7 DONSON DPAGT1 DPH1 DPH5 DPM1 DPM2 DPYD DSE DSTYK DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EBP ECEL1 EDN1 EDNRA EED EFEMP2 EFTUD2 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 EXOC6B EXT1 EXT2 EXTL3 EYA1 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FDFT1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLCN FLII FLNA FLNB FLVCR2 FOCAD FOXC2 FOXF1 FZD2 GAD1 GATA1 GATA4 GATAD2B GBA1 GDF11 GEMIN4 GHR GJA1 GJA5 GJA8 GLE1 GLI3 GMNN GNA11 GNAI3 GNB2 GNPAT GNPTAB GP1BB GPC6 GPKOW GRB10 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H19-ICR H3-3A H4C9 HACD1 HBA1 HBA2 HCCS HDAC6 HDAC8 HEATR3 HELLS HIRA HMGA2 HMX1 HNRNPH2 HNRNPR HNRNPU HOXB1 HRAS HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDUA IFT140 IFT43 IFT80 IGF1 IGF1R IGF2 IGFALS INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITGA7 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNN3 KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF7 KLHL41 KMT2D KNL1 KPTN KRAS LAGE3 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LOXL3 LRP4 LRRC32 LTBP4 LZTR1 MAD2L2 MADD MAFB MAN2C1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM5 MCTP2 MECP2 MED12 MEG3 METTL27 MID1 MINPP1 MITF MKS1 MLXIPL MMP2 MPLKIP MRAS MSTO1 MTX2 MUSK MYBPC1 MYCN MYH3 MYH7 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NBN NCAPG2 NCF1 NDE1 NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NF1 NFIX NIPBL NOTCH2 NOTCH3 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSUN2 NUP107 NUP133 NUP85 NUP88 NXN OCLN OCRL OFD1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTX2 P4HB PAH PAK2 PALB2 PAX1 PAX6 PAX7 PCNT PDE4D PDE6D PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3R1 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB4 PLK4 PLXND1 POGZ POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 PPP1R12A PPP1R15B PPP3CA PQBP1 PRDM13 PRIM1 PRORP PRRX1 PRUNE1 PSAT1 PSMC1 PSMD12 PSPH PTDSS1 PTEN PTH1R PTPN11 PUF60 PURA PUS1 PUS7 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RDH11 RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RHOBTB2 RIN2 RIPK4 RIT1 RLIM RNF113A RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RTL1 RTTN RUNX2 SALL4 SATB2 SC5D SCARF2 SCYL2 SEC24C SEC24D SEC31A SELENON SEMA5A SERPINH1 SETBP1 SETD5 SF3B2 SF3B4 SH2B1 SH3PXD2B SHANK3 SHOX SIM1 SIN3A SIX1 SKI SLC10A7 SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC2A10 SLC35A3 SLC37A4 SLC5A7 SLX4 SMC1A SMC3 SMG8 SMO SMOC1 SNAP25 SNRPB SNRPN SOS1 SOS2 SOX6 SOX9 SP7 SPATA5L1 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STRA6 STX1A SUZ12 SYT2 TAB2 TAF1 TAPT1 TARS1 TASP1 TBC1D20 TBCD TBCE TBL2 TBX1 TBX15 TBX4 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TFAP2A TGDS TGFBR1 TGFBR2 THOC6 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNNI2 TNNT3 TNRC6B TOE1 TOPORS TOR1A TP53RK TPM2 TPM3 TPRKB TRAIP TRIO TRIP11 TRIP13 TRIP4 TRMT10A TRPS1 TRRAP TSEN54 TSR2 TTN TUBA1A TUBB TUBB3 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBE2T UBE3B UFD1 UNC80 UPF3B USB1 VAC14 VAMP1 VARS1 VPS13B VPS33B VPS35L VPS37D VPS53 WASHC5 WDR26 WDR35 WDR4 WDR62 WDR73 WLS WNT3 WNT5A WNT7A WT1 XRCC2 XRCC4 YARS1 YARS2 YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC9 ZMIZ1 ZMPSTE24 ZNF292 ZNF335 ZNF341 ZNF699

Diseases (769) :OMIM:614857 ORPHA:171439 ORPHA:2020 ORPHA:171436 ORPHA:2995 ORPHA:2604 ORPHA:124 ORPHA:1901 OMIM:225410 ORPHA:363528 ORPHA:98889 OMIM:616503 ORPHA:536532 OMIM:618000 OMIM:619297 ORPHA:444077 ORPHA:98914 ORPHA:412069 OMIM:615829 OMIM:615109 OMIM:620025 OMIM:608540 ORPHA:79324 OMIM:300884 OMIM:619036 ORPHA:79328 OMIM:263210 ORPHA:52022 OMIM:300373 ORPHA:2780 OMIM:300990 OMIM:619699 ORPHA:251066 OMIM:616681 ORPHA:261250 ORPHA:2067 OMIM:230740 ORPHA:261584 OMIM:617164 ORPHA:251056 OMIM:617808 ORPHA:1556 ORPHA:567 OMIM:300215 ORPHA:452 OMIM:615574 OMIM:605039 ORPHA:97297 OMIM:615485 OMIM:617183 ORPHA:496790 OMIM:618810 OMIM:301045 OMIM:278250 ORPHA:3473 ORPHA:565 OMIM:604273 ORPHA:808 OMIM:210600 OMIM:309580 ORPHA:352490 OMIM:615834 OMIM:609465 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 OMIM:130070 ORPHA:564 OMIM:614008 ORPHA:904 OMIM:617237 ORPHA:893 OMIM:618291 OMIM:619325 ORPHA:125 OMIM:607932 OMIM:608022 OMIM:614078 ORPHA:529962 OMIM:617755 OMIM:115150 OMIM:163950 OMIM:614498 ORPHA:84 ORPHA:199 ORPHA:444072 ORPHA:1052 OMIM:257300 OMIM:218340 ORPHA:1777 ORPHA:75392 ORPHA:434179 OMIM:615948 ORPHA:2785 OMIM:620029 OMIM:614756 OMIM:251450 ORPHA:33364 OMIM:300749 ORPHA:163937 ORPHA:648 ORPHA:7 OMIM:619123 ORPHA:1308 OMIM:211750 OMIM:619841 ORPHA:2554 OMIM:613805 ORPHA:2268 OMIM:616342 ORPHA:397590 OMIM:613804 OMIM:616051 OMIM:243605 OMIM:616300 OMIM:613823 OMIM:236500 OMIM:614114 OMIM:619873 OMIM:214800 ORPHA:233 OMIM:253290 OMIM:608930 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:363417 OMIM:619339 OMIM:612651 ORPHA:1545 OMIM:619512 OMIM:616271 ORPHA:453510 OMIM:618608 OMIM:616286 OMIM:618186 OMIM:618266 ORPHA:263508 OMIM:611209 OMIM:618150 ORPHA:79333 OMIM:608779 OMIM:611182 ORPHA:440354 ORPHA:250984 OMIM:154780 ORPHA:560 OMIM:604841 ORPHA:166100 OMIM:614524 OMIM:215150 ORPHA:1427 ORPHA:75840 ORPHA:536516 OMIM:616720 ORPHA:1899 OMIM:259420 ORPHA:1143 OMIM:200610 ORPHA:93346 ORPHA:94068 ORPHA:93316 OMIM:108300 ORPHA:2500 OMIM:618343 OMIM:619329 ORPHA:2556 OMIM:619326 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:194190 OMIM:616229 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:615789 OMIM:272430 OMIM:618870 OMIM:617062 ORPHA:397715 ORPHA:48431 ORPHA:281 ORPHA:763 OMIM:265800 OMIM:618142 ORPHA:166035 OMIM:250410 OMIM:600721 ORPHA:314679 OMIM:601390 OMIM:271665 ORPHA:819 ORPHA:35107 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:263750 ORPHA:246 ORPHA:2849 OMIM:267000 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:615807 OMIM:617052 OMIM:242860 OMIM:614219 ORPHA:994 OMIM:618389 OMIM:251230 OMIM:608093 ORPHA:459061 OMIM:616901 OMIM:620070 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:293948 OMIM:270750 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:614104 ORPHA:731 ORPHA:401973 OMIM:300960 OMIM:615065 ORPHA:137888 OMIM:615706 OMIM:616367 ORPHA:3447 OMIM:614437 OMIM:610536 ORPHA:79113 OMIM:268305 OMIM:619376 OMIM:616875 ORPHA:480898 ORPHA:1270 OMIM:211180 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:242840 OMIM:607598 OMIM:610758 ORPHA:1466 OMIM:610756 OMIM:616570 OMIM:214150 ORPHA:75857 ORPHA:3103 OMIM:268300 ORPHA:502 ORPHA:508533 ORPHA:52429 ORPHA:1832 OMIM:259775 ORPHA:3412 OMIM:614083 OMIM:615546 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:121050 OMIM:606220 OMIM:619777 OMIM:618914 OMIM:618156 ORPHA:2363 ORPHA:90024 OMIM:610706 ORPHA:2645 OMIM:614592 ORPHA:313855 ORPHA:85165 OMIM:216340 ORPHA:3472 OMIM:236670 OMIM:610883 ORPHA:555877 ORPHA:1826 OMIM:309350 ORPHA:2484 ORPHA:90652 OMIM:304120 ORPHA:1190 ORPHA:56305 OMIM:108720 OMIM:108721 OMIM:225790 OMIM:619991 OMIM:153400 OMIM:265380 ORPHA:93328 OMIM:619124 ORPHA:251071 ORPHA:363686 OMIM:608013 OMIM:619122 OMIM:617913 ORPHA:633 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:611890 OMIM:253310 ORPHA:1486 ORPHA:672 OMIM:616835 OMIM:602483 OMIM:619503 OMIM:222765 OMIM:252500 ORPHA:93329 OMIM:258315 ORPHA:2570 ORPHA:96182 OMIM:617667 OMIM:602471 OMIM:180860 OMIM:619720 OMIM:619951 ORPHA:98791 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 ORPHA:94063 OMIM:612109 OMIM:300986 OMIM:620073 ORPHA:238769 OMIM:614744 OMIM:218040 OMIM:261515 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:255800 OMIM:309590 ORPHA:2189 OMIM:236680 ORPHA:96191 OMIM:233600 OMIM:616007 OMIM:607015 OMIM:266920 OMIM:614099 OMIM:617866 ORPHA:73272 OMIM:608747 OMIM:270450 ORPHA:140941 OMIM:618571 OMIM:617925 ORPHA:60030 OMIM:619472 ORPHA:397933 ORPHA:1300 OMIM:611174 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 ORPHA:89844 OMIM:170390 ORPHA:37553 ORPHA:435628 OMIM:614098 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:619320 OMIM:300534 OMIM:147920 OMIM:300867 OMIM:619501 OMIM:616258 OMIM:200990 OMIM:614120 OMIM:615731 OMIM:604321 ORPHA:397612 ORPHA:2065 OMIM:301006 OMIM:215140 ORPHA:1426 OMIM:619322 OMIM:620089 OMIM:617468 OMIM:601559 ORPHA:235 ORPHA:99812 OMIM:619694 ORPHA:79474 ORPHA:280365 OMIM:176670 ORPHA:740 OMIM:248370 ORPHA:1662 OMIM:619793 OMIM:212780 OMIM:619074 OMIM:613177 OMIM:605275 OMIM:619005 ORPHA:2774 OMIM:166300 OMIM:619775 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616734 OMIM:156200 OMIM:617564 ORPHA:1596 OMIM:300055 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:300895 OMIM:305450 ORPHA:2745 ORPHA:284339 OMIM:617306 OMIM:249000 OMIM:259600 ORPHA:502423 OMIM:617675 OMIM:619127 OMIM:208150 OMIM:618524 OMIM:164280 ORPHA:391641 ORPHA:1147 ORPHA:324604 OMIM:158300 ORPHA:1358 OMIM:254940 OMIM:619941 OMIM:616549 ORPHA:276432 OMIM:300855 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:251260 OMIM:618460 ORPHA:3253 OMIM:617201 ORPHA:2751 OMIM:617022 ORPHA:363700 ORPHA:447980 OMIM:602535 OMIM:122470 ORPHA:955 OMIM:102500 OMIM:130720 ORPHA:2789 OMIM:619833 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:308050 ORPHA:436182 OMIM:617253 OMIM:618348 OMIM:616730 OMIM:618393 ORPHA:1507 OMIM:618529 OMIM:251290 ORPHA:534 OMIM:311200 ORPHA:2750 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:259720 ORPHA:990 ORPHA:2050 OMIM:112240 ORPHA:2209 OMIM:618458 OMIM:615560 OMIM:618578 ORPHA:439822 OMIM:601812 OMIM:170100 ORPHA:742 OMIM:214100 ORPHA:912 OMIM:614887 OMIM:614866 OMIM:614882 OMIM:214110 OMIM:215100 ORPHA:247262 OMIM:614921 OMIM:256520 OMIM:617991 OMIM:619708 OMIM:616531 OMIM:616843 OMIM:114300 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:618580 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:618548 ORPHA:369837 OMIM:615108 OMIM:269880 OMIM:618821 OMIM:256600 OMIM:617527 ORPHA:521426 OMIM:614669 OMIM:616171 ORPHA:570 OMIM:616364 OMIM:615381 OMIM:618336 OMIM:616462 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 OMIM:264090 OMIM:253280 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:618265 OMIM:617711 ORPHA:93946 OMIM:309500 OMIM:619909 OMIM:620005 OMIM:619737 OMIM:202650 ORPHA:544469 OMIM:616038 ORPHA:284417 OMIM:620071 OMIM:617516 ORPHA:79350 OMIM:151050 ORPHA:109 OMIM:158350 ORPHA:50945 OMIM:215045 OMIM:156400 ORPHA:508488 ORPHA:508498 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:618342 OMIM:617258 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:618577 ORPHA:1713 OMIM:618388 OMIM:615524 ORPHA:1587 OMIM:606744 ORPHA:2886 OMIM:311900 OMIM:274000 ORPHA:3320 ORPHA:436245 OMIM:218600 ORPHA:1225 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:612015 OMIM:618004 OMIM:613075 ORPHA:1234 OMIM:263650 OMIM:300978 ORPHA:2636 OMIM:210710 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:612561 OMIM:105650 OMIM:613309 OMIM:606164 OMIM:618021 ORPHA:3301 ORPHA:468631 ORPHA:1452 OMIM:119600 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:607330 ORPHA:46059 OMIM:600920 OMIM:618766 OMIM:616294 OMIM:618651 OMIM:613848 ORPHA:798 ORPHA:404440 OMIM:615761 OMIM:164210 OMIM:154400 ORPHA:1788 ORPHA:245 ORPHA:261197 OMIM:249420 OMIM:606232 OMIM:249700 ORPHA:314795 ORPHA:171829 OMIM:613406 OMIM:182212 OMIM:618363 ORPHA:99742 OMIM:607196 OMIM:612289 ORPHA:93298 ORPHA:56304 OMIM:256050 ORPHA:628 ORPHA:93307 OMIM:208050 OMIM:615553 OMIM:619525 OMIM:613951 OMIM:300590 OMIM:610759 OMIM:619268 OMIM:241800 ORPHA:1106 OMIM:117650 ORPHA:1393 ORPHA:177907 OMIM:618971 OMIM:114290 ORPHA:140 ORPHA:718 OMIM:613849 OMIM:619616 OMIM:145420 OMIM:615959 OMIM:619312 OMIM:618829 OMIM:611431 OMIM:616200 ORPHA:1772 OMIM:300934 OMIM:255995 ORPHA:168572 ORPHA:502434 OMIM:301043 OMIM:301022 OMIM:601186 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:616897 OMIM:618950 ORPHA:496641 OMIM:617193 OMIM:241410 ORPHA:2323 ORPHA:1727 OMIM:188400 OMIM:260660 OMIM:147891 OMIM:154500 OMIM:258860 ORPHA:2753 ORPHA:488642 OMIM:617952 OMIM:113620 OMIM:616145 ORPHA:1388 OMIM:609192 OMIM:610168 OMIM:613680 OMIM:213980 OMIM:617562 OMIM:614052 OMIM:601680 OMIM:619243 OMIM:614969 OMIM:618947 OMIM:616777 OMIM:617061 ORPHA:476126 ORPHA:93299 OMIM:616866 ORPHA:77258 OMIM:190350 OMIM:618454 ORPHA:166063 OMIM:300946 ORPHA:171680 OMIM:156610 ORPHA:300570 OMIM:617746 OMIM:209885 OMIM:619879 OMIM:608572 OMIM:301830 OMIM:244450 ORPHA:2707 OMIM:604173 OMIM:617802 ORPHA:193 OMIM:216550 OMIM:208085 OMIM:619135 OMIM:615851 OMIM:220210 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:604317 OMIM:251300 OMIM:619648 OMIM:273395 ORPHA:2879 OMIM:619418 ORPHA:506358 OMIM:617557 ORPHA:36367 OMIM:612337 OMIM:314580 OMIM:301041 OMIM:618659 ORPHA:90154 OMIM:608612 OMIM:275210 OMIM:619188 OMIM:615095 OMIM:618282 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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