Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000306	HP:0000306	Abnormality of the chin	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0000306	HP:0000306	Abnormality of the chin	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000306	HP:0000306	Abnormality of the chin	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000306	HP:0000306	Abnormality of the chin	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0000306	HP:0000306	Abnormality of the chin	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000306	HP:0000306	Abnormality of the chin	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0000306	HP:0000306	Abnormality of the chin	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0000306	HP:0000306	Abnormality of the chin	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis		84
HP:0000306	HP:0000306	Abnormality of the chin	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000306	HP:0000306	Abnormality of the chin	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0000306	HP:0000306	Abnormality of the chin	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0000306	HP:0000306	Abnormality of the chin	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000306	HP:0000306	Abnormality of the chin	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0000306	HP:0000306	Abnormality of the chin	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0000306	HP:0000306	Abnormality of the chin	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0000306	HP:0000306	Abnormality of the chin	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000306	HP:0000306	Abnormality of the chin	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG		96
HP:0000306	HP:0000306	Abnormality of the chin	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000306	HP:0000306	Abnormality of the chin	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0000306	HP:0000306	Abnormality of the chin	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0000306	HP:0000306	Abnormality of the chin	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000306	HP:0000306	Abnormality of the chin	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000306	HP:0000306	Abnormality of the chin	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0000306	HP:0000306	Abnormality of the chin	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome		13
HP:0000306	HP:0000306	Abnormality of the chin	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000306	HP:0000306	Abnormality of the chin	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0000306	HP:0000306	Abnormality of the chin	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0000306	HP:0000306	Abnormality of the chin	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0000306	HP:0000306	Abnormality of the chin	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000306	HP:0000306	Abnormality of the chin	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000306	HP:0000306	Abnormality of the chin	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome		5
HP:0000306	HP:0000306	Abnormality of the chin	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0000306	HP:0000306	Abnormality of the chin	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0000306	HP:0000306	Abnormality of the chin	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000306	HP:0000306	Abnormality of the chin	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000306	HP:0000306	Abnormality of the chin	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000306	HP:0000306	Abnormality of the chin	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000306	HP:0000306	Abnormality of the chin	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0000306	HP:0000306	Abnormality of the chin	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000306	HP:0000306	Abnormality of the chin	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0000306	HP:0000306	Abnormality of the chin	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000306	HP:0000306	Abnormality of the chin	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0000306	HP:0000306	Abnormality of the chin	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000306	HP:0000306	Abnormality of the chin	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0000306	HP:0000306	Abnormality of the chin	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000306	HP:0000306	Abnormality of the chin	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000306	HP:0000306	Abnormality of the chin	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0000306	HP:0000306	Abnormality of the chin	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000306	HP:0000306	Abnormality of the chin	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0000306	HP:0000306	Abnormality of the chin	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0000306	HP:0000306	Abnormality of the chin	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000306	HP:0000306	Abnormality of the chin	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000306	HP:0000306	Abnormality of the chin	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000306	HP:0000306	Abnormality of the chin	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000306	HP:0000306	Abnormality of the chin	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000306	HP:0000306	Abnormality of the chin	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000306	HP:0000306	Abnormality of the chin	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000306	HP:0000306	Abnormality of the chin	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0000306	HP:0000306	Abnormality of the chin	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0000306	HP:0000306	Abnormality of the chin	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0000306	HP:0000306	Abnormality of the chin	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0000306	HP:0000306	Abnormality of the chin	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000306	HP:0000306	Abnormality of the chin	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000306	HP:0000306	Abnormality of the chin	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0000306	HP:0000306	Abnormality of the chin	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000306	HP:0000306	Abnormality of the chin	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0000306	HP:0000306	Abnormality of the chin	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000306	HP:0000306	Abnormality of the chin	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0000306	HP:0000306	Abnormality of the chin	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000306	HP:0000306	Abnormality of the chin	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000306	HP:0000306	Abnormality of the chin	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000306	HP:0000306	Abnormality of the chin	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV		2
HP:0000306	HP:0000306	Abnormality of the chin	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000306	HP:0000306	Abnormality of the chin	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0000306	HP:0000306	Abnormality of the chin	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0000306	HP:0000306	Abnormality of the chin	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0000306	HP:0000306	Abnormality of the chin	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000306	HP:0000306	Abnormality of the chin	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0000306	HP:0000306	Abnormality of the chin	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0000306	HP:0000306	Abnormality of the chin	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0000306	HP:0000306	Abnormality of the chin	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000306	HP:0000306	Abnormality of the chin	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0000306	HP:0000306	Abnormality of the chin	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000306	HP:0000306	Abnormality of the chin	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000306	HP:0000306	Abnormality of the chin	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000306	HP:0000306	Abnormality of the chin	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000306	HP:0000306	Abnormality of the chin	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000306	HP:0000306	Abnormality of the chin	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000306	HP:0000306	Abnormality of the chin	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000306	HP:0000306	Abnormality of the chin	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000306	HP:0000306	Abnormality of the chin	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000306	HP:0000306	Abnormality of the chin	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000306	HP:0000306	Abnormality of the chin	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000306	HP:0000306	Abnormality of the chin	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis		1361
HP:0000306	HP:0000306	Abnormality of the chin	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000306	HP:0000306	Abnormality of the chin	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000306	HP:0000306	Abnormality of the chin	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000306	HP:0000306	Abnormality of the chin	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000306	HP:0000306	Abnormality of the chin	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0000306	HP:0000306	Abnormality of the chin	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0000306	HP:0000306	Abnormality of the chin	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000306	HP:0000306	Abnormality of the chin	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0000306	HP:0000306	Abnormality of the chin	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0000306	HP:0000306	Abnormality of the chin	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000306	HP:0000306	Abnormality of the chin	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0000306	HP:0000306	Abnormality of the chin	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0000306	HP:0000306	Abnormality of the chin	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0000306	HP:0000306	Abnormality of the chin	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000306	HP:0000306	Abnormality of the chin	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0000306	HP:0000306	Abnormality of the chin	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0000306	HP:0000306	Abnormality of the chin	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0000306	HP:0000306	Abnormality of the chin	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0000306	HP:0000306	Abnormality of the chin	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000306	HP:0000306	Abnormality of the chin	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000306	HP:0000306	Abnormality of the chin	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0000306	HP:0000306	Abnormality of the chin	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000306	HP:0000306	Abnormality of the chin	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0000306	HP:0000306	Abnormality of the chin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0000306	HP:0000306	Abnormality of the chin	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0000306	HP:0000306	Abnormality of the chin	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000306	HP:0000306	Abnormality of the chin	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000306	HP:0000306	Abnormality of the chin	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000306	HP:0000306	Abnormality of the chin	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0000306	HP:0000306	Abnormality of the chin	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000306	HP:0000306	Abnormality of the chin	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000306	HP:0000306	Abnormality of the chin	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0000306	HP:0000306	Abnormality of the chin	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000306	HP:0000306	Abnormality of the chin	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000306	HP:0000306	Abnormality of the chin	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000306	HP:0000306	Abnormality of the chin	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0000306	HP:0000306	Abnormality of the chin	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000306	HP:0000306	Abnormality of the chin	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0000306	HP:0000306	Abnormality of the chin	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0000306	HP:0000306	Abnormality of the chin	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000306	HP:0000306	Abnormality of the chin	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000306	HP:0000306	Abnormality of the chin	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000306	HP:0000306	Abnormality of the chin	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000306	HP:0000306	Abnormality of the chin	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000306	HP:0000306	Abnormality of the chin	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome		115
HP:0000306	HP:0000306	Abnormality of the chin	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0000306	HP:0000306	Abnormality of the chin	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000306	HP:0000306	Abnormality of the chin	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000306	HP:0000306	Abnormality of the chin	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000306	HP:0000306	Abnormality of the chin	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0000306	HP:0000306	Abnormality of the chin	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0000306	HP:0000306	Abnormality of the chin	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0000306	HP:0000306	Abnormality of the chin	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0000306	HP:0000306	Abnormality of the chin	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000306	HP:0000306	Abnormality of the chin	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000306	HP:0000306	Abnormality of the chin	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000306	HP:0000306	Abnormality of the chin	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000306	HP:0000306	Abnormality of the chin	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000306	HP:0000306	Abnormality of the chin	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000306	HP:0000306	Abnormality of the chin	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000306	HP:0000306	Abnormality of the chin	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000306	HP:0000306	Abnormality of the chin	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0000306	HP:0000306	Abnormality of the chin	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000306	HP:0000306	Abnormality of the chin	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000306	HP:0000306	Abnormality of the chin	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000306	HP:0000306	Abnormality of the chin	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0000306	HP:0000306	Abnormality of the chin	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000306	HP:0000306	Abnormality of the chin	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0000306	HP:0000306	Abnormality of the chin	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000306	HP:0000306	Abnormality of the chin	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000306	HP:0000306	Abnormality of the chin	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0000306	HP:0000306	Abnormality of the chin	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0000306	HP:0000306	Abnormality of the chin	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0000306	HP:0000306	Abnormality of the chin	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0000306	HP:0000306	Abnormality of the chin	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000306	HP:0000306	Abnormality of the chin	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0000306	HP:0000306	Abnormality of the chin	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent	4
HP:0000306	HP:0000306	Abnormality of the chin	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0000306	HP:0000306	Abnormality of the chin	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type		125
HP:0000306	HP:0000306	Abnormality of the chin	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata		125
HP:0000306	HP:0000306	Abnormality of the chin	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature		12
HP:0000306	HP:0000306	Abnormality of the chin	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000306	HP:0000306	Abnormality of the chin	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000306	HP:0000306	Abnormality of the chin	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000306	HP:0000306	Abnormality of the chin	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0000306	HP:0000306	Abnormality of the chin	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000306	HP:0000306	Abnormality of the chin	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0000306	HP:0000306	Abnormality of the chin	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0000306	HP:0000306	Abnormality of the chin	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000306	HP:0000306	Abnormality of the chin	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000306	HP:0000306	Abnormality of the chin	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000306	HP:0000306	Abnormality of the chin	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000306	HP:0000306	Abnormality of the chin	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000306	HP:0000306	Abnormality of the chin	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000306	HP:0000306	Abnormality of the chin	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000306	HP:0000306	Abnormality of the chin	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000306	HP:0000306	Abnormality of the chin	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000306	HP:0000306	Abnormality of the chin	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0000306	HP:0000306	Abnormality of the chin	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0000306	HP:0000306	Abnormality of the chin	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000306	HP:0000306	Abnormality of the chin	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000306	HP:0000306	Abnormality of the chin	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000306	HP:0000306	Abnormality of the chin	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0000306	HP:0000306	Abnormality of the chin	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7		93
HP:0000306	HP:0000306	Abnormality of the chin	0	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome		93
HP:0000306	HP:0000306	Abnormality of the chin	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000306	HP:0000306	Abnormality of the chin	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000306	HP:0000306	Abnormality of the chin	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000306	HP:0000306	Abnormality of the chin	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0000306	HP:0000306	Abnormality of the chin	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000306	HP:0000306	Abnormality of the chin	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000306	HP:0000306	Abnormality of the chin	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000306	HP:0000306	Abnormality of the chin	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000306	HP:0000306	Abnormality of the chin	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000306	HP:0000306	Abnormality of the chin	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0000306	HP:0000306	Abnormality of the chin	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0000306	HP:0000306	Abnormality of the chin	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000306	HP:0000306	Abnormality of the chin	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome		88
HP:0000306	HP:0000306	Abnormality of the chin	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0000306	HP:0000306	Abnormality of the chin	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000306	HP:0000306	Abnormality of the chin	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000306	HP:0000306	Abnormality of the chin	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000306	HP:0000306	Abnormality of the chin	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000306	HP:0000306	Abnormality of the chin	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000306	HP:0000306	Abnormality of the chin	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000306	HP:0000306	Abnormality of the chin	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0000306	HP:0000306	Abnormality of the chin	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000306	HP:0000306	Abnormality of the chin	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000306	HP:0000306	Abnormality of the chin	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0000306	HP:0000306	Abnormality of the chin	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000306	HP:0000306	Abnormality of the chin	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000306	HP:0000306	Abnormality of the chin	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0000306	HP:0000306	Abnormality of the chin	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000306	HP:0000306	Abnormality of the chin	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000306	HP:0000306	Abnormality of the chin	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000306	HP:0000306	Abnormality of the chin	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000306	HP:0000306	Abnormality of the chin	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0000306	HP:0000306	Abnormality of the chin	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0000306	HP:0000306	Abnormality of the chin	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0000306	HP:0000306	Abnormality of the chin	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000306	HP:0000306	Abnormality of the chin	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000306	HP:0000306	Abnormality of the chin	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0000306	HP:0000306	Abnormality of the chin	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0000306	HP:0000306	Abnormality of the chin	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0000306	HP:0000306	Abnormality of the chin	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000306	HP:0000306	Abnormality of the chin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0000306	HP:0000306	Abnormality of the chin	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0000306	HP:0000306	Abnormality of the chin	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0000306	HP:0000306	Abnormality of the chin	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0000306	HP:0000306	Abnormality of the chin	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0000306	HP:0000306	Abnormality of the chin	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000306	HP:0000306	Abnormality of the chin	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000306	HP:0000306	Abnormality of the chin	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		11
HP:0000306	HP:0000306	Abnormality of the chin	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000306	HP:0000306	Abnormality of the chin	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0000306	HP:0000306	Abnormality of the chin	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000306	HP:0000306	Abnormality of the chin	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0000306	HP:0000306	Abnormality of the chin	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000306	HP:0000306	Abnormality of the chin	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000306	HP:0000306	Abnormality of the chin	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000306	HP:0000306	Abnormality of the chin	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000306	HP:0000306	Abnormality of the chin	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0000306	HP:0000306	Abnormality of the chin	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000306	HP:0000306	Abnormality of the chin	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0000306	HP:0000306	Abnormality of the chin	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000306	HP:0000306	Abnormality of the chin	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000306	HP:0000306	Abnormality of the chin	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type		28
HP:0000306	HP:0000306	Abnormality of the chin	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0000306	HP:0000306	Abnormality of the chin	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0000306	HP:0000306	Abnormality of the chin	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000306	HP:0000306	Abnormality of the chin	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000306	HP:0000306	Abnormality of the chin	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0000306	HP:0000306	Abnormality of the chin	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000306	HP:0000306	Abnormality of the chin	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0000306	HP:0000306	Abnormality of the chin	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000306	HP:0000306	Abnormality of the chin	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0000306	HP:0000306	Abnormality of the chin	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0000306	HP:0000306	Abnormality of the chin	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0000306	HP:0000306	Abnormality of the chin	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000306	HP:0000306	Abnormality of the chin	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000306	HP:0000306	Abnormality of the chin	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000306	HP:0000306	Abnormality of the chin	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000306	HP:0000306	Abnormality of the chin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0000306	HP:0000306	Abnormality of the chin	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000306	HP:0000306	Abnormality of the chin	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000306	HP:0000306	Abnormality of the chin	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0000306	HP:0000306	Abnormality of the chin	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000306	HP:0000306	Abnormality of the chin	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000306	HP:0000306	Abnormality of the chin	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome		445
HP:0000306	HP:0000306	Abnormality of the chin	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000306	HP:0000306	Abnormality of the chin	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000306	HP:0000306	Abnormality of the chin	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0000306	HP:0000306	Abnormality of the chin	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0000306	HP:0000306	Abnormality of the chin	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000306	HP:0000306	Abnormality of the chin	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000306	HP:0000306	Abnormality of the chin	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000306	HP:0000306	Abnormality of the chin	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000306	HP:0000306	Abnormality of the chin	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000306	HP:0000306	Abnormality of the chin	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000306	HP:0000306	Abnormality of the chin	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0000306	HP:0000306	Abnormality of the chin	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000306	HP:0000306	Abnormality of the chin	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000306	HP:0000306	Abnormality of the chin	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0000306	HP:0000306	Abnormality of the chin	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000306	HP:0000306	Abnormality of the chin	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000306	HP:0000306	Abnormality of the chin	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000306	HP:0000306	Abnormality of the chin	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0000306	HP:0000306	Abnormality of the chin	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000306	HP:0000306	Abnormality of the chin	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000306	HP:0000306	Abnormality of the chin	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000306	HP:0000306	Abnormality of the chin	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000306	HP:0000306	Abnormality of the chin	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000306	HP:0000306	Abnormality of the chin	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0000306	HP:0000306	Abnormality of the chin	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0000306	HP:0000306	Abnormality of the chin	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000306	HP:0000306	Abnormality of the chin	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000306	HP:0000306	Abnormality of the chin	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000306	HP:0000306	Abnormality of the chin	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0000306	HP:0000306	Abnormality of the chin	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000306	HP:0000306	Abnormality of the chin	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000306	HP:0000306	Abnormality of the chin	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0000306	HP:0000306	Abnormality of the chin	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000306	HP:0000306	Abnormality of the chin	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000306	HP:0000306	Abnormality of the chin	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000306	HP:0000306	Abnormality of the chin	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000306	HP:0000306	Abnormality of the chin	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000306	HP:0000306	Abnormality of the chin	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0000306	HP:0000306	Abnormality of the chin	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0000306	HP:0000306	Abnormality of the chin	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0000306	HP:0000306	Abnormality of the chin	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata		26
HP:0000306	HP:0000306	Abnormality of the chin	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0000306	HP:0000306	Abnormality of the chin	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000306	HP:0000306	Abnormality of the chin	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0000306	HP:0000306	Abnormality of the chin	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000306	HP:0000306	Abnormality of the chin	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000306	HP:0000306	Abnormality of the chin	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000306	HP:0000306	Abnormality of the chin	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000306	HP:0000306	Abnormality of the chin	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000306	HP:0000306	Abnormality of the chin	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000306	HP:0000306	Abnormality of the chin	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000306	HP:0000306	Abnormality of the chin	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000306	HP:0000306	Abnormality of the chin	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000306	HP:0000306	Abnormality of the chin	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000306	HP:0000306	Abnormality of the chin	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0000306	HP:0000306	Abnormality of the chin	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000306	HP:0000306	Abnormality of the chin	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0000306	HP:0000306	Abnormality of the chin	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000306	HP:0000306	Abnormality of the chin	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0000306	HP:0000306	Abnormality of the chin	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000306	HP:0000306	Abnormality of the chin	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:0000306	HP:0000306	Abnormality of the chin	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive		4
HP:0000306	HP:0000306	Abnormality of the chin	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0000306	HP:0000306	Abnormality of the chin	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000306	HP:0000306	Abnormality of the chin	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000306	HP:0000306	Abnormality of the chin	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0000306	HP:0000306	Abnormality of the chin	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0000306	HP:0000306	Abnormality of the chin	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000306	HP:0000306	Abnormality of the chin	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000306	HP:0000306	Abnormality of the chin	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000306	HP:0000306	Abnormality of the chin	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0000306	HP:0000306	Abnormality of the chin	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0000306	HP:0000306	Abnormality of the chin	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000306	HP:0000306	Abnormality of the chin	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000306	HP:0000306	Abnormality of the chin	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000306	HP:0000306	Abnormality of the chin	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000306	HP:0000306	Abnormality of the chin	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000306	HP:0000306	Abnormality of the chin	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000306	HP:0000306	Abnormality of the chin	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0000306	HP:0000306	Abnormality of the chin	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000306	HP:0000306	Abnormality of the chin	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0000306	HP:0000306	Abnormality of the chin	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		14
HP:0000306	HP:0000306	Abnormality of the chin	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		61
HP:0000306	HP:0000306	Abnormality of the chin	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000306	HP:0000306	Abnormality of the chin	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000306	HP:0000306	Abnormality of the chin	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000306	HP:0000306	Abnormality of the chin	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0000306	HP:0000306	Abnormality of the chin	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15		278
HP:0000306	HP:0000306	Abnormality of the chin	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000306	HP:0000306	Abnormality of the chin	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000306	HP:0000306	Abnormality of the chin	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000306	HP:0000306	Abnormality of the chin	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000306	HP:0000306	Abnormality of the chin	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0000306	HP:0000306	Abnormality of the chin	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0000306	HP:0000306	Abnormality of the chin	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000306	HP:0000306	Abnormality of the chin	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000306	HP:0000306	Abnormality of the chin	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000306	HP:0000306	Abnormality of the chin	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0000306	HP:0000306	Abnormality of the chin	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000306	HP:0000306	Abnormality of the chin	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000306	HP:0000306	Abnormality of the chin	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000306	HP:0000306	Abnormality of the chin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0000306	HP:0000306	Abnormality of the chin	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000306	HP:0000306	Abnormality of the chin	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000306	HP:0000306	Abnormality of the chin	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000306	HP:3000029	Abnormality of depressor labii inferioris	1	CL E G H
HP:0000306	HP:3000007	Abnormality of mentalis muscle	1	CL E G H
HP:0000306	HP:0400001	Chin with vertical crease	1	CL E G H
HP:0000306	HP:0000331	Short chin	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000306	HP:0000307	Pointed chin	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000306	HP:0000303	Mandibular prognathia	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000306	HP:0000303	Mandibular prognathia	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0000306	HP:0000307	Pointed chin	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000306	HP:0000307	Pointed chin	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000306	HP:0000307	Pointed chin	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000306	HP:0000307	Pointed chin	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0000306	HP:0000303	Mandibular prognathia	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	84
HP:0000306	HP:0000303	Mandibular prognathia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000306	HP:0000303	Mandibular prognathia	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0000306	HP:0000303	Mandibular prognathia	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0000306	HP:0000303	Mandibular prognathia	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000306	HP:0000303	Mandibular prognathia	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0000306	HP:0000303	Mandibular prognathia	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000306	HP:0000303	Mandibular prognathia	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0000306	HP:0000331	Short chin	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000306	HP:0000331	Short chin	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0000306	HP:0000303	Mandibular prognathia	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000306	HP:0000303	Mandibular prognathia	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0000306	HP:0000307	Pointed chin	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0000306	HP:0000307	Pointed chin	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000306	HP:0000303	Mandibular prognathia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0000306	HP:0000303	Mandibular prognathia	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0000306	HP:0000331	Short chin	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent	13
HP:0000306	HP:0000307	Pointed chin	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000306	HP:0000303	Mandibular prognathia	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0000306	HP:0000303	Mandibular prognathia	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0000306	HP:0400000	Tall chin	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0000306	HP:0000303	Mandibular prognathia	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.	1
HP:0000306	HP:0000331	Short chin	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000306	HP:0000331	Short chin	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000306	HP:0000303	Mandibular prognathia	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000306	HP:0000303	Mandibular prognathia	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0000306	HP:0000303	Mandibular prognathia	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0000306	HP:0000303	Mandibular prognathia	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000306	HP:0000307	Pointed chin	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000306	HP:0000307	Pointed chin	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0000306	HP:0000303	Mandibular prognathia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000306	HP:0000307	Pointed chin	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0000306	HP:0000307	Pointed chin	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000306	HP:0000331	Short chin	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0000306	HP:0000303	Mandibular prognathia	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0000306	HP:0000303	Mandibular prognathia	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000306	HP:0000307	Pointed chin	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000306	HP:0000331	Short chin	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000306	HP:0000307	Pointed chin	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000306	HP:0000307	Pointed chin	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000306	HP:0000307	Pointed chin	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000306	HP:0000303	Mandibular prognathia	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0000306	HP:0000303	Mandibular prognathia	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0000306	HP:0000307	Pointed chin	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0000306	HP:0000307	Pointed chin	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000306	HP:0000303	Mandibular prognathia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000306	HP:0000307	Pointed chin	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000306	HP:0000303	Mandibular prognathia	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000306	HP:0000303	Mandibular prognathia	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000306	HP:0000307	Pointed chin	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000306	HP:0011823	Chin with horizontal crease	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000306	HP:0000307	Pointed chin	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000306	HP:0000331	Short chin	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000306	HP:0000307	Pointed chin	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000306	HP:0000307	Pointed chin	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000306	HP:0000307	Pointed chin	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent	2
HP:0000306	HP:0000307	Pointed chin	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0000306	HP:0010751	Dimple chin	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000306	HP:0000307	Pointed chin	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000306	HP:0000303	Mandibular prognathia	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0000306	HP:0000307	Pointed chin	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0000306	HP:0000303	Mandibular prognathia	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000306	HP:0000307	Pointed chin	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare	45
HP:0000306	HP:0000303	Mandibular prognathia	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000306	HP:0000303	Mandibular prognathia	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000306	HP:0000307	Pointed chin	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000306	HP:0000331	Short chin	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0000306	HP:0000307	Pointed chin	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000306	HP:0000303	Mandibular prognathia	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0000306	HP:0000331	Short chin	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040282 - Frequent	6
HP:0000306	HP:0000307	Pointed chin	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0000306	HP:0010751	Dimple chin	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000306	HP:0000303	Mandibular prognathia	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0000306	HP:0000307	Pointed chin	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000306	HP:0000303	Mandibular prognathia	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000306	HP:0000307	Pointed chin	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0000306	HP:0000331	Short chin	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0000306	HP:0000331	Short chin	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000306	HP:0000303	Mandibular prognathia	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0000306	HP:0000303	Mandibular prognathia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0000306	HP:0000307	Pointed chin	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0000306	HP:0000303	Mandibular prognathia	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:0000306	HP:0011823	Chin with horizontal crease	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0000306	HP:0011824	Chin with H-shaped crease	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:0000306	HP:0000307	Pointed chin	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000306	HP:0000303	Mandibular prognathia	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0000306	HP:0000303	Mandibular prognathia	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0000306	HP:0000307	Pointed chin	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0000306	HP:0000331	Short chin	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	HP:0040283 - Occasional	108
HP:0000306	HP:0000303	Mandibular prognathia	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0000306	HP:0011822	Broad chin	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000306	HP:0000331	Short chin	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000306	HP:0011822	Broad chin	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000306	HP:0000331	Short chin	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000306	HP:0011823	Chin with horizontal crease	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000306	HP:0000303	Mandibular prognathia	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000306	HP:0400000	Tall chin	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0000306	HP:0000307	Pointed chin	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000306	HP:0000331	Short chin	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	20
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0000306	HP:0000331	Short chin	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0000306	HP:0000331	Short chin	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	199
HP:0000306	HP:0000331	Short chin	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0000306	HP:0000331	Short chin	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000306	HP:0000331	Short chin	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0000306	HP:0000303	Mandibular prognathia	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	55
HP:0000306	HP:0000331	Short chin	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0000306	HP:0000331	Short chin	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000306	HP:0000303	Mandibular prognathia	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000306	HP:0010751	Dimple chin	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000306	HP:0000303	Mandibular prognathia	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000306	HP:0000303	Mandibular prognathia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000306	HP:0000303	Mandibular prognathia	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	1361
HP:0000306	HP:0000331	Short chin	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000306	HP:0000303	Mandibular prognathia	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000306	HP:0000307	Pointed chin	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent	18
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040283 - Occasional	175
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0000306	HP:0000303	Mandibular prognathia	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000306	HP:0011323	Cleft of chin	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000306	HP:0000331	Short chin	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000306	HP:0000307	Pointed chin	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0000306	HP:0000303	Mandibular prognathia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000306	HP:0000307	Pointed chin	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000306	HP:0000331	Short chin	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000306	HP:0000303	Mandibular prognathia	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000306	HP:0000303	Mandibular prognathia	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent	30
HP:0000306	HP:0000303	Mandibular prognathia	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0000306	HP:0000307	Pointed chin	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000306	HP:0000303	Mandibular prognathia	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0000306	HP:0000303	Mandibular prognathia	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0000306	HP:0011823	Chin with horizontal crease	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000306	HP:0000303	Mandibular prognathia	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000306	HP:0000307	Pointed chin	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0000306	HP:0000303	Mandibular prognathia	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0000306	HP:0000303	Mandibular prognathia	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0000306	HP:0000303	Mandibular prognathia	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000306	HP:0000303	Mandibular prognathia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000306	HP:0000303	Mandibular prognathia	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000306	HP:0000307	Pointed chin	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000306	HP:0000307	Pointed chin	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000306	HP:0000303	Mandibular prognathia	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000306	HP:0000303	Mandibular prognathia	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0000306	HP:0000303	Mandibular prognathia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000306	HP:0000303	Mandibular prognathia	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0000306	HP:0000303	Mandibular prognathia	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	52
HP:0000306	HP:0000303	Mandibular prognathia	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0000306	HP:0000303	Mandibular prognathia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0000306	HP:0000303	Mandibular prognathia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000306	HP:0000303	Mandibular prognathia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000306	HP:0000303	Mandibular prognathia	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000306	HP:0000331	Short chin	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000306	HP:0000303	Mandibular prognathia	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000306	HP:0000307	Pointed chin	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000307	Pointed chin	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000307	Pointed chin	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000331	Short chin	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	4
HP:0000306	HP:0000303	Mandibular prognathia	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000306	HP:0000303	Mandibular prognathia	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000306	HP:0000303	Mandibular prognathia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000306	HP:0000303	Mandibular prognathia	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000306	HP:0000303	Mandibular prognathia	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000306	HP:0000303	Mandibular prognathia	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.	38
HP:0000306	HP:0000303	Mandibular prognathia	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0000306	HP:0000303	Mandibular prognathia	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000306	HP:0000307	Pointed chin	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000306	HP:0000307	Pointed chin	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000306	HP:0000303	Mandibular prognathia	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000306	HP:0000307	Pointed chin	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0000306	HP:0000303	Mandibular prognathia	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0000306	HP:0000303	Mandibular prognathia	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0000306	HP:0000331	Short chin	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	9
HP:0000306	HP:0000303	Mandibular prognathia	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000306	HP:0000303	Mandibular prognathia	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000306	HP:0000303	Mandibular prognathia	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000306	HP:0000307	Pointed chin	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000306	HP:0000303	Mandibular prognathia	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000306	HP:0000303	Mandibular prognathia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000306	HP:0000303	Mandibular prognathia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0000306	HP:0000331	Short chin	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000306	HP:0000331	Short chin	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000306	HP:0011822	Broad chin	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000306	HP:0011822	Broad chin	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000306	HP:0011822	Broad chin	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000306	HP:0000303	Mandibular prognathia	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000306	HP:0000307	Pointed chin	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000306	HP:0000303	Mandibular prognathia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000306	HP:0000307	Pointed chin	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000303	Mandibular prognathia	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000306	HP:0010751	Dimple chin	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000306	HP:0000303	Mandibular prognathia	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000306	HP:0000307	Pointed chin	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000306	HP:0000303	Mandibular prognathia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000306	HP:0000303	Mandibular prognathia	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000306	HP:0000303	Mandibular prognathia	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000306	HP:0000307	Pointed chin	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000306	HP:0000303	Mandibular prognathia	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000306	HP:0000307	Pointed chin	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000306	HP:0000303	Mandibular prognathia	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0000306	HP:0000303	Mandibular prognathia	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000306	HP:0000303	Mandibular prognathia	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0000306	HP:0000307	Pointed chin	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000331	Short chin	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0000306	HP:0000307	Pointed chin	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000306	HP:0011822	Broad chin	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0000306	HP:0000303	Mandibular prognathia	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0000306	HP:0000303	Mandibular prognathia	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional	125
HP:0000306	HP:0000303	Mandibular prognathia	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent	125
HP:0000306	HP:0000303	Mandibular prognathia	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	HP:0040283 - Occasional	12
HP:0000306	HP:0000307	Pointed chin	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000306	HP:0000303	Mandibular prognathia	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000306	HP:0000303	Mandibular prognathia	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0000306	HP:0000331	Short chin	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000306	HP:0000307	Pointed chin	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000306	HP:0000307	Pointed chin	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000306	HP:0000303	Mandibular prognathia	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000306	HP:0000303	Mandibular prognathia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000306	HP:0000331	Short chin	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000306	HP:0000307	Pointed chin	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000306	HP:0000307	Pointed chin	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000306	HP:0000307	Pointed chin	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000306	HP:0000303	Mandibular prognathia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000306	HP:0000331	Short chin	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000306	HP:0000331	Short chin	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0000306	HP:0000307	Pointed chin	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000306	HP:0000303	Mandibular prognathia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000306	HP:0000303	Mandibular prognathia	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0000306	HP:0000331	Short chin	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000306	HP:0000303	Mandibular prognathia	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:0000306	HP:0011824	Chin with H-shaped crease	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:0000306	HP:0011823	Chin with horizontal crease	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0000306	HP:0000307	Pointed chin	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0000306	HP:0000303	Mandibular prognathia	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0000306	HP:0000307	Pointed chin	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000306	HP:0000303	Mandibular prognathia	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000306	HP:0000307	Pointed chin	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000307	Pointed chin	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000306	HP:0000307	Pointed chin	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000306	HP:0000303	Mandibular prognathia	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000306	HP:0000331	Short chin	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0000306	HP:0000331	Short chin	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000306	HP:0011824	Chin with H-shaped crease	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000306	HP:0000303	Mandibular prognathia	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000306	HP:0010751	Dimple chin	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000306	HP:0000307	Pointed chin	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0000306	HP:0010751	Dimple chin	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0000306	HP:0000303	Mandibular prognathia	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	1269
HP:0000306	HP:0400000	Tall chin	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	HP:0040283 - Occasional	93
HP:0000306	HP:0000303	Mandibular prognathia	1	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome	HP:0040283 - Occasional	93
HP:0000306	HP:0000331	Short chin	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000306	HP:0000303	Mandibular prognathia	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000306	HP:0011823	Chin with horizontal crease	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000306	HP:0011824	Chin with H-shaped crease	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000306	HP:0010751	Dimple chin	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0000306	HP:0000307	Pointed chin	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000306	HP:0000303	Mandibular prognathia	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000306	HP:0000331	Short chin	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000306	HP:0000303	Mandibular prognathia	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000306	HP:0000331	Short chin	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000306	HP:0000307	Pointed chin	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0000306	HP:0000303	Mandibular prognathia	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000306	HP:0000307	Pointed chin	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000306	HP:0000303	Mandibular prognathia	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent	88
HP:0000306	HP:0000307	Pointed chin	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0000306	HP:0000307	Pointed chin	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000306	HP:0000331	Short chin	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000306	HP:0400000	Tall chin	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0000306	HP:0000307	Pointed chin	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000306	HP:0000303	Mandibular prognathia	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000306	HP:0000331	Short chin	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000306	HP:0000303	Mandibular prognathia	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000306	HP:0000331	Short chin	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0000306	HP:0000307	Pointed chin	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000306	HP:0000307	Pointed chin	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0000306	HP:0000303	Mandibular prognathia	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0000306	HP:0000303	Mandibular prognathia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000306	HP:0000303	Mandibular prognathia	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000306	HP:0400000	Tall chin	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0000306	HP:0000303	Mandibular prognathia	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0000306	HP:0000307	Pointed chin	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000306	HP:0000303	Mandibular prognathia	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000306	HP:0000331	Short chin	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000306	HP:0000331	Short chin	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000306	HP:0000303	Mandibular prognathia	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0000306	HP:0000303	Mandibular prognathia	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000306	HP:0000303	Mandibular prognathia	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0000306	HP:0000303	Mandibular prognathia	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000306	HP:0000303	Mandibular prognathia	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000306	HP:0000307	Pointed chin	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000306	HP:0000303	Mandibular prognathia	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0000306	HP:0000303	Mandibular prognathia	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000306	HP:0000303	Mandibular prognathia	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0000306	HP:0000303	Mandibular prognathia	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent	113
HP:0000306	HP:0000307	Pointed chin	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000306	HP:0000307	Pointed chin	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000306	HP:0000303	Mandibular prognathia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000306	HP:0010751	Dimple chin	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent	77
HP:0000306	HP:0000307	Pointed chin	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000306	HP:0000331	Short chin	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000306	HP:0000307	Pointed chin	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000306	HP:0000303	Mandibular prognathia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000306	HP:0010751	Dimple chin	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000306	HP:0000307	Pointed chin	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000306	HP:0000307	Pointed chin	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000306	HP:0000303	Mandibular prognathia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0000306	HP:0000307	Pointed chin	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0000306	HP:0000303	Mandibular prognathia	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0000306	HP:0000303	Mandibular prognathia	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000306	HP:0000307	Pointed chin	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000306	HP:0000307	Pointed chin	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional	35
HP:0000306	HP:0000307	Pointed chin	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000306	HP:0000307	Pointed chin	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000306	HP:0000307	Pointed chin	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000306	HP:0000307	Pointed chin	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0000306	HP:0000307	Pointed chin	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0000306	HP:0000331	Short chin	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000306	HP:0000303	Mandibular prognathia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000306	HP:0000303	Mandibular prognathia	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0000306	HP:0000303	Mandibular prognathia	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional	28
HP:0000306	HP:0000307	Pointed chin	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0000306	HP:0000303	Mandibular prognathia	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0000306	HP:0000303	Mandibular prognathia	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0000306	HP:0000303	Mandibular prognathia	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000306	HP:0000303	Mandibular prognathia	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0000306	HP:0000307	Pointed chin	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000331	Short chin	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0000306	HP:0000307	Pointed chin	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000306	HP:0000303	Mandibular prognathia	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000306	HP:0000303	Mandibular prognathia	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000306	HP:0000303	Mandibular prognathia	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	665
HP:0000306	HP:0000303	Mandibular prognathia	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000306	HP:0000303	Mandibular prognathia	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	40
HP:0000306	HP:0000303	Mandibular prognathia	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0000306	HP:0000331	Short chin	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0000306	HP:0000303	Mandibular prognathia	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0000306	HP:0000331	Short chin	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000306	HP:0000331	Short chin	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000306	HP:0000303	Mandibular prognathia	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000306	HP:0000303	Mandibular prognathia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000306	HP:0000307	Pointed chin	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000306	HP:0000303	Mandibular prognathia	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	53
HP:0000306	HP:0000303	Mandibular prognathia	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000306	HP:0000303	Mandibular prognathia	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000306	HP:0000303	Mandibular prognathia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0000306	HP:0000303	Mandibular prognathia	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000306	HP:0000307	Pointed chin	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000306	HP:0000331	Short chin	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0000306	HP:0000303	Mandibular prognathia	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000306	HP:0000307	Pointed chin	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0000306	HP:0000307	Pointed chin	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0000306	HP:0000303	Mandibular prognathia	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0000306	HP:0000303	Mandibular prognathia	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000306	HP:0000303	Mandibular prognathia	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000306	HP:0000331	Short chin	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000306	HP:0000331	Short chin	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000306	HP:0000331	Short chin	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000306	HP:0000303	Mandibular prognathia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000306	HP:0000303	Mandibular prognathia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent	10
HP:0000306	HP:0000303	Mandibular prognathia	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040280 - Obligate	10
HP:0000306	HP:0000303	Mandibular prognathia	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000306	HP:0000303	Mandibular prognathia	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:0000306	HP:0011823	Chin with horizontal crease	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000306	HP:0011824	Chin with H-shaped crease	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:0000306	HP:0010751	Dimple chin	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0000306	HP:0000303	Mandibular prognathia	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0000306	HP:0000303	Mandibular prognathia	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000306	HP:0011823	Chin with horizontal crease	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000306	HP:0000331	Short chin	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000306	HP:0000307	Pointed chin	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000306	HP:0000303	Mandibular prognathia	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	144
HP:0000306	HP:0010751	Dimple chin	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000306	HP:0000331	Short chin	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000306	HP:0000307	Pointed chin	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000306	HP:0000307	Pointed chin	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000306	HP:0000303	Mandibular prognathia	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000306	HP:0000307	Pointed chin	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000306	HP:0400000	Tall chin	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0000306	HP:0000303	Mandibular prognathia	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0000306	HP:0000303	Mandibular prognathia	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0000306	HP:0000307	Pointed chin	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000306	HP:0000307	Pointed chin	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000306	HP:0000331	Short chin	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0000306	HP:0000307	Pointed chin	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000306	HP:0000307	Pointed chin	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0000306	HP:0011822	Broad chin	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000306	HP:0000331	Short chin	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000306	HP:0000307	Pointed chin	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0000306	HP:0000303	Mandibular prognathia	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0000306	HP:0000303	Mandibular prognathia	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0000306	HP:0000303	Mandibular prognathia	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000306	HP:0010751	Dimple chin	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000306	HP:0000303	Mandibular prognathia	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000306	HP:0000303	Mandibular prognathia	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0000306	HP:0000303	Mandibular prognathia	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000306	HP:0000303	Mandibular prognathia	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000306	HP:0000303	Mandibular prognathia	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0000306	HP:0000307	Pointed chin	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0000306	HP:0000303	Mandibular prognathia	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0000306	HP:0000303	Mandibular prognathia	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent	26
HP:0000306	HP:0000303	Mandibular prognathia	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000306	HP:0000331	Short chin	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000306	HP:0000303	Mandibular prognathia	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000306	HP:0010751	Dimple chin	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0000306	HP:0000307	Pointed chin	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0000306	HP:0000307	Pointed chin	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000306	HP:0000307	Pointed chin	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000306	HP:0000307	Pointed chin	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000306	HP:0000307	Pointed chin	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000306	HP:0000307	Pointed chin	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000306	HP:0000303	Mandibular prognathia	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000306	HP:0000303	Mandibular prognathia	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0000306	HP:0000303	Mandibular prognathia	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000306	HP:0011822	Broad chin	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000306	HP:0000303	Mandibular prognathia	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000306	HP:0000307	Pointed chin	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0011822	Broad chin	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0000306	HP:0000303	Mandibular prognathia	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000306	HP:0000303	Mandibular prognathia	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	124
HP:0000306	HP:0000303	Mandibular prognathia	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000306	HP:0000303	Mandibular prognathia	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0000306	HP:0011822	Broad chin	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000306	HP:0000307	Pointed chin	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000306	HP:0000307	Pointed chin	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent	21
HP:0000306	HP:0000303	Mandibular prognathia	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000306	HP:0000307	Pointed chin	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000306	HP:0000303	Mandibular prognathia	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0000306	HP:0000303	Mandibular prognathia	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000306	HP:0000307	Pointed chin	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000306	HP:0000303	Mandibular prognathia	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000306	HP:0000307	Pointed chin	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0010751	Dimple chin	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0000306	HP:0010751	Dimple chin	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000306	HP:0011323	Cleft of chin	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000306	HP:0000303	Mandibular prognathia	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0000306	HP:0000307	Pointed chin	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000306	HP:0000303	Mandibular prognathia	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000306	HP:0400000	Tall chin	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000306	HP:0000307	Pointed chin	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000306	HP:0000307	Pointed chin	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000306	HP:0000303	Mandibular prognathia	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0000306	HP:0000303	Mandibular prognathia	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0000306	HP:0000303	Mandibular prognathia	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000306	HP:0000303	Mandibular prognathia	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000306	HP:0000303	Mandibular prognathia	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000306	HP:0000331	Short chin	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000306	HP:0000331	Short chin	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000306	HP:0000307	Pointed chin	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000306	HP:0011823	Chin with horizontal crease	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000306	HP:0000307	Pointed chin	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000306	HP:0000303	Mandibular prognathia	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	7128
HP:0000306	HP:0000307	Pointed chin	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000306	HP:0000307	Pointed chin	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000306	HP:0011323	Cleft of chin	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000306	HP:0000303	Mandibular prognathia	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000306	HP:0011823	Chin with horizontal crease	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000306	HP:0010751	Dimple chin	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0000306	HP:0000303	Mandibular prognathia	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000306	HP:0000303	Mandibular prognathia	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000306	HP:0000303	Mandibular prognathia	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0000306	HP:0000303	Mandibular prognathia	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0000306	HP:0000303	Mandibular prognathia	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278
HP:0000306	HP:0000303	Mandibular prognathia	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0000306	HP:0000307	Pointed chin	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0000307	Pointed chin	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000306	HP:0000303	Mandibular prognathia	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000306	HP:0000331	Short chin	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000306	HP:0000307	Pointed chin	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000306	HP:0011822	Broad chin	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000306	HP:0000303	Mandibular prognathia	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0000306	HP:0000331	Short chin	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000306	HP:0000307	Pointed chin	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0000306	HP:0000307	Pointed chin	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000306	HP:0000331	Short chin	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0000306	HP:0000307	Pointed chin	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000306	HP:0000303	Mandibular prognathia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000306	HP:0000307	Pointed chin	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000306	HP:0000307	Pointed chin	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000306	HP:0000303	Mandibular prognathia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000306	HP:0000331	Short chin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0000306	HP:0000307	Pointed chin	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000306	HP:0000307	Pointed chin	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000306	HP:0000331	Short chin	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000306	HP:0000307	Pointed chin	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24