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:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ACAN CL E G H	176	319	ORPHA:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome		34
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome		63
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome		1361
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	88
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040281 - Very frequent	106
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	106
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome		123
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	84
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040283 - Occasional	365
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome		445
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	67
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T		2
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009601	HP:0009601	Aplasia/Hypoplasia of the thumb	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009601	HP:0009778	Short thumb	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	HP:0040284 - Very rare	34
HP:0009601	HP:0009778	Short thumb	1	ACAN CL E G H	176	319	ORPHA:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	HP:0040282 - Frequent	34
HP:0009601	HP:0009778	Short thumb	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009601	HP:0009778	Short thumb	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009777	Absent thumb	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009778	Short thumb	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	63
HP:0009601	HP:0009778	Short thumb	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0009601	HP:0009778	Short thumb	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0009601	HP:0009778	Short thumb	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0009601	HP:0009778	Short thumb	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0009601	HP:0009778	Short thumb	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009601	HP:0009778	Short thumb	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009601	HP:0009778	Short thumb	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0009601	HP:0009778	Short thumb	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009601	HP:0009778	Short thumb	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0009601	HP:0009778	Short thumb	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009601	HP:0009778	Short thumb	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0009601	HP:0009778	Short thumb	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009601	HP:0009778	Short thumb	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0009601	HP:0009778	Short thumb	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0009601	HP:0009778	Short thumb	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009601	HP:0009778	Short thumb	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0009601	HP:0009778	Short thumb	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0009601	HP:0009778	Short thumb	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009601	HP:0009778	Short thumb	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009778	Short thumb	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009601	HP:0009777	Absent thumb	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0009601	HP:0009778	Short thumb	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0009601	HP:0009778	Short thumb	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0009601	HP:0009778	Short thumb	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0009778	Short thumb	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0009601	HP:0009778	Short thumb	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009601	HP:0009777	Absent thumb	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0009601	HP:0009778	Short thumb	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0009601	HP:0009777	Absent thumb	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0009601	HP:0009778	Short thumb	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0009601	HP:0009777	Absent thumb	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0009601	HP:0009778	Short thumb	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0009601	HP:0009777	Absent thumb	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0009601	HP:0009778	Short thumb	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009601	HP:0009659	Partial absence of thumb	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009601	HP:0009777	Absent thumb	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009601	HP:0009778	Short thumb	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0009601	HP:0009777	Absent thumb	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0009601	HP:0009778	Short thumb	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009601	HP:0009777	Absent thumb	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009601	HP:0009778	Short thumb	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0009601	HP:0009777	Absent thumb	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0009601	HP:0009777	Absent thumb	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0009601	HP:0009778	Short thumb	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	1361
HP:0009601	HP:0009659	Partial absence of thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009601	HP:0009777	Absent thumb	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0009601	HP:0009778	Short thumb	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0009601	HP:0009777	Absent thumb	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0009601	HP:0009659	Partial absence of thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009601	HP:0009778	Short thumb	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0009601	HP:0009777	Absent thumb	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0009601	HP:0009778	Short thumb	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0009601	HP:0009659	Partial absence of thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009601	HP:0009778	Short thumb	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0009601	HP:0009659	Partial absence of thumb	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009601	HP:0009777	Absent thumb	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0009601	HP:0009777	Absent thumb	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0009601	HP:0009778	Short thumb	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009601	HP:0009778	Short thumb	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009601	HP:0009778	Short thumb	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent	493
HP:0009601	HP:0009778	Short thumb	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0009601	HP:0009778	Short thumb	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0009601	HP:0009778	Short thumb	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009601	HP:0009778	Short thumb	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009601	HP:0009777	Absent thumb	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0009601	HP:0009778	Short thumb	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0009601	HP:0009778	Short thumb	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0009601	HP:0009778	Short thumb	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent	52
HP:0009601	HP:0009778	Short thumb	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009601	HP:0009778	Short thumb	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0009601	HP:0009778	Short thumb	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009601	HP:0009778	Short thumb	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009601	HP:0009778	Short thumb	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009601	HP:0009778	Short thumb	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009601	HP:0009778	Short thumb	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009601	HP:0009778	Short thumb	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0009601	HP:0009778	Short thumb	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009601	HP:0009778	Short thumb	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0009601	HP:0009778	Short thumb	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009601	HP:0009778	Short thumb	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009601	HP:0009778	Short thumb	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.	3
HP:0009601	HP:0009778	Short thumb	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0009601	HP:0009778	Short thumb	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009601	HP:0009778	Short thumb	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009601	HP:0009778	Short thumb	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0009601	HP:0009778	Short thumb	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009601	HP:0009659	Partial absence of thumb	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009601	HP:0009778	Short thumb	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0009601	HP:0009778	Short thumb	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0009601	HP:0009778	Short thumb	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	123
HP:0009601	HP:0009778	Short thumb	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009601	HP:0009778	Short thumb	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009601	HP:0009778	Short thumb	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0009778	Short thumb	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0009601	HP:0009778	Short thumb	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040282 - Frequent	1
HP:0009601	HP:0009778	Short thumb	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0009601	HP:0009778	Short thumb	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0009601	HP:0009778	Short thumb	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0009601	HP:0009778	Short thumb	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009601	HP:0009778	Short thumb	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009601	HP:0009778	Short thumb	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009601	HP:0009778	Short thumb	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0009601	HP:0009778	Short thumb	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0009601	HP:0009778	Short thumb	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0009601	HP:0009778	Short thumb	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009601	HP:0009778	Short thumb	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0009601	HP:0009778	Short thumb	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009601	HP:0009778	Short thumb	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009601	HP:0009777	Absent thumb	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0009601	HP:0009778	Short thumb	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0009601	HP:0009778	Short thumb	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009601	HP:0009778	Short thumb	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009601	HP:0009778	Short thumb	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009601	HP:0009777	Absent thumb	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0009601	HP:0009778	Short thumb	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0009601	HP:0009778	Short thumb	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009601	HP:0009777	Absent thumb	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0009601	HP:0009778	Short thumb	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0009601	HP:0009777	Absent thumb	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0009601	HP:0009777	Absent thumb	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0009601	HP:0009778	Short thumb	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009601	HP:0009777	Absent thumb	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009601	HP:0009778	Short thumb	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0009601	HP:0009778	Short thumb	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009777	Absent thumb	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009778	Short thumb	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0009601	HP:0009778	Short thumb	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009777	Absent thumb	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009777	Absent thumb	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009778	Short thumb	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009778	Short thumb	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009777	Absent thumb	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009777	Absent thumb	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0009601	HP:0009778	Short thumb	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009778	Short thumb	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009777	Absent thumb	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009777	Absent thumb	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009778	Short thumb	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009777	Absent thumb	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0009601	HP:0009778	Short thumb	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0009601	HP:0009778	Short thumb	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0009601	HP:0009777	Absent thumb	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0009601	HP:0009778	Short thumb	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0009601	HP:0009777	Absent thumb	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0009601	HP:0009778	Short thumb	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0009601	HP:0009778	Short thumb	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009777	Absent thumb	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009601	HP:0009777	Absent thumb	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0009601	HP:0009778	Short thumb	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0009601	HP:0009777	Absent thumb	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0009601	HP:0009778	Short thumb	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0009601	HP:0009777	Absent thumb	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0009601	HP:0009778	Short thumb	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0009601	HP:0009778	Short thumb	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009778	Short thumb	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009601	HP:0009777	Absent thumb	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009601	HP:0009778	Short thumb	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009601	HP:0009778	Short thumb	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009778	Short thumb	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009777	Absent thumb	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009778	Short thumb	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009601	HP:0009777	Absent thumb	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009601	HP:0009778	Short thumb	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009601	HP:0009777	Absent thumb	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0009601	HP:0009778	Short thumb	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009601	HP:0009778	Short thumb	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0009601	HP:0009778	Short thumb	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009601	HP:0009777	Absent thumb	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009601	HP:0009777	Absent thumb	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009601	HP:0009778	Short thumb	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent	86
HP:0009601	HP:0009778	Short thumb	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009601	HP:0009778	Short thumb	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009601	HP:0009778	Short thumb	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009601	HP:0009777	Absent thumb	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0009601	HP:0009659	Partial absence of thumb	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009601	HP:0009778	Short thumb	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0009601	HP:0009778	Short thumb	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009601	HP:0009777	Absent thumb	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0009601	HP:0009778	Short thumb	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0009601	HP:0009778	Short thumb	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009601	HP:0009778	Short thumb	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009601	HP:0009777	Absent thumb	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0009601	HP:0009778	Short thumb	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009601	HP:0009778	Short thumb	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0009601	HP:0009778	Short thumb	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009601	HP:0009778	Short thumb	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009601	HP:0009778	Short thumb	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009601	HP:0009777	Absent thumb	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0009601	HP:0009777	Absent thumb	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009601	HP:0009778	Short thumb	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0009601	HP:0009659	Partial absence of thumb	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0009601	HP:0009777	Absent thumb	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009778	Short thumb	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009601	HP:0009778	Short thumb	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0009601	HP:0009777	Absent thumb	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0009601	HP:0009659	Partial absence of thumb	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009601	HP:0009778	Short thumb	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009601	HP:0009778	Short thumb	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009601	HP:0009777	Absent thumb	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009601	HP:0009659	Partial absence of thumb	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009601	HP:0009778	Short thumb	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009601	HP:0009778	Short thumb	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0009601	HP:0009649	Aplasia of the distal phalanx of the thumb	2	CL E G H
HP:0009601	HP:0005726	Thumbs hypoplastic with bulbous tips	2	CL E G H
HP:0009601	HP:0009660	Short phalanx of the thumb	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009601	HP:0009660	Short phalanx of the thumb	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009601	HP:0009660	Short phalanx of the thumb	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009601	HP:0009660	Short phalanx of the thumb	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009601	HP:0009660	Short phalanx of the thumb	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009601	HP:0009660	Short phalanx of the thumb	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009601	HP:0009660	Short phalanx of the thumb	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009601	HP:0009637	Absent proximal phalanx of thumb	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009601	HP:0009637	Absent proximal phalanx of thumb	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009601	HP:0009637	Absent proximal phalanx of thumb	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0009601	HP:0009660	Short phalanx of the thumb	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009601	HP:0009660	Short phalanx of the thumb	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009601	HP:0009660	Short phalanx of the thumb	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009601	HP:0009660	Short phalanx of the thumb	2	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009601	HP:0009660	Short phalanx of the thumb	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009601	HP:0009660	Short phalanx of the thumb	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009601	HP:0009660	Short phalanx of the thumb	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009601	HP:0009660	Short phalanx of the thumb	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009601	HP:0009660	Short phalanx of the thumb	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009601	HP:0009660	Short phalanx of the thumb	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009601	HP:0009660	Short phalanx of the thumb	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009601	HP:0009660	Short phalanx of the thumb	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009601	HP:0009660	Short phalanx of the thumb	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009601	HP:0009660	Short phalanx of the thumb	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0009601	HP:0009660	Short phalanx of the thumb	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009601	HP:0009660	Short phalanx of the thumb	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009601	HP:0009660	Short phalanx of the thumb	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009601	HP:0009660	Short phalanx of the thumb	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009601	HP:0009660	Short phalanx of the thumb	2	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009601	HP:0009660	Short phalanx of the thumb	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009601	HP:0009660	Short phalanx of the thumb	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009601	HP:0009660	Short phalanx of the thumb	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009601	HP:0009660	Short phalanx of the thumb	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009601	HP:0009660	Short phalanx of the thumb	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009601	HP:0009660	Short phalanx of the thumb	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009601	HP:0009660	Short phalanx of the thumb	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0009601	HP:0009660	Short phalanx of the thumb	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009601	HP:0010035	Aplasia of the 1st metacarpal	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009601	HP:0010034	Short 1st metacarpal	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0009601	HP:0010034	Short 1st metacarpal	3	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009601	HP:0009638	Short proximal phalanx of thumb	3	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009601	HP:0010034	Short 1st metacarpal	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0009601	HP:0010034	Short 1st metacarpal	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0009601	HP:0010034	Short 1st metacarpal	3	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:0009601	HP:0010034	Short 1st metacarpal	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009601	HP:0010034	Short 1st metacarpal	3	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0009601	HP:0010034	Short 1st metacarpal	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0009601	HP:0010034	Short 1st metacarpal	3	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0009601	HP:0010034	Short 1st metacarpal	3	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009601	HP:0010034	Short 1st metacarpal	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0009601	HP:0010034	Short 1st metacarpal	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0009601	HP:0010034	Short 1st metacarpal	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009601	HP:0009638	Short proximal phalanx of thumb	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009601	HP:0009638	Short proximal phalanx of thumb	3	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009601	HP:0010034	Short 1st metacarpal	3	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009601	HP:0010034	Short 1st metacarpal	3	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:0009601	HP:0010034	Short 1st metacarpal	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0009601	HP:0010034	Short 1st metacarpal	3	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009601	HP:0010034	Short 1st metacarpal	3	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009601	HP:0010034	Short 1st metacarpal	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009601	HP:0010034	Short 1st metacarpal	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0009601	HP:0010034	Short 1st metacarpal	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0009601	HP:0010034	Short 1st metacarpal	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0009601	HP:0010034	Short 1st metacarpal	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009601	HP:0010034	Short 1st metacarpal	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0009601	HP:0010034	Short 1st metacarpal	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0009601	HP:0010034	Short 1st metacarpal	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0009601	HP:0010034	Short 1st metacarpal	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009601	HP:0010034	Short 1st metacarpal	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009601	HP:0009650	Short distal phalanx of the thumb	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0009601	HP:0010034	Short 1st metacarpal	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3