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:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges 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:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges 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:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges 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:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009658	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009658	HP:0009660	Short phalanx of the thumb	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0009658	HP:0009660	Short phalanx of the thumb	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0009658	HP:0009660	Short phalanx of the thumb	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009658	HP:0009660	Short phalanx of the thumb	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0009658	HP:0009660	Short phalanx of the thumb	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009658	HP:0009660	Short phalanx of the thumb	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009658	HP:0009659	Partial absence of thumb	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009658	HP:0009660	Short phalanx of the thumb	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009658	HP:0009659	Partial absence of thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009658	HP:0009659	Partial absence of thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009658	HP:0009659	Partial absence of thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009658	HP:0009659	Partial absence of thumb	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009658	HP:0009660	Short phalanx of the thumb	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009658	HP:0009660	Short phalanx of the thumb	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009658	HP:0009660	Short phalanx of the thumb	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0009658	HP:0009660	Short phalanx of the thumb	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52
HP:0009658	HP:0009660	Short phalanx of the thumb	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009658	HP:0009660	Short phalanx of the thumb	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009658	HP:0009660	Short phalanx of the thumb	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0009658	HP:0009660	Short phalanx of the thumb	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009658	HP:0009660	Short phalanx of the thumb	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009658	HP:0009660	Short phalanx of the thumb	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009658	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009658	HP:0009660	Short phalanx of the thumb	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009658	HP:0009660	Short phalanx of the thumb	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009658	HP:0009660	Short phalanx of the thumb	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009658	HP:0009660	Short phalanx of the thumb	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009658	HP:0009659	Partial absence of thumb	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009658	HP:0009660	Short phalanx of the thumb	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009658	HP:0009660	Short phalanx of the thumb	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009658	HP:0009660	Short phalanx of the thumb	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0009658	HP:0009660	Short phalanx of the thumb	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009658	HP:0009660	Short phalanx of the thumb	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009658	HP:0009660	Short phalanx of the thumb	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009658	HP:0009660	Short phalanx of the thumb	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009658	HP:0009660	Short phalanx of the thumb	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009658	HP:0009660	Short phalanx of the thumb	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009658	HP:0009660	Short phalanx of the thumb	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0009658	HP:0009660	Short phalanx of the thumb	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009658	HP:0009659	Partial absence of thumb	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009658	HP:0009660	Short phalanx of the thumb	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0009658	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:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009658	HP:0009659	Partial absence of thumb	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009658	HP:0009660	Short phalanx of the thumb	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009658	HP:0009659	Partial absence of thumb	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009658	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009658	HP:0009649	Aplasia of the distal phalanx of the thumb	2	CL E G H
HP:0009658	HP:0010034	Short 1st metacarpal	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0009658	HP:0010034	Short 1st metacarpal	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009658	HP:0009638	Short proximal phalanx of thumb	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009658	HP:0010034	Short 1st metacarpal	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0009658	HP:0010034	Short 1st metacarpal	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0009658	HP:0010034	Short 1st metacarpal	2	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:0009658	HP:0010035	Aplasia of the 1st metacarpal	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009658	HP:0010034	Short 1st metacarpal	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0009658	HP:0009637	Absent proximal phalanx of thumb	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009658	HP:0009637	Absent proximal phalanx of thumb	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009658	HP:0009637	Absent proximal phalanx of thumb	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009658	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:0009658	HP:0009650	Short distal phalanx of the thumb	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009658	HP:0010034	Short 1st metacarpal	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0009658	HP:0010034	Short 1st metacarpal	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0009658	HP:0010034	Short 1st metacarpal	2	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0009658	HP:0010034	Short 1st metacarpal	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009658	HP:0010034	Short 1st metacarpal	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0009658	HP:0010034	Short 1st metacarpal	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0009658	HP:0010034	Short 1st metacarpal	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009658	HP:0009638	Short proximal phalanx of thumb	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009658	HP:0009638	Short proximal phalanx of thumb	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009658	HP:0010034	Short 1st metacarpal	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009658	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:0009658	HP:0009650	Short distal phalanx of the thumb	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009658	HP:0010034	Short 1st metacarpal	2	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:0009658	HP:0010034	Short 1st metacarpal	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0009658	HP:0010034	Short 1st metacarpal	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009658	HP:0010034	Short 1st metacarpal	2	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009658	HP:0010034	Short 1st metacarpal	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009658	HP:0010034	Short 1st metacarpal	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0009658	HP:0010034	Short 1st metacarpal	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0009658	HP:0010034	Short 1st metacarpal	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0009658	HP:0010034	Short 1st metacarpal	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009658	HP:0010034	Short 1st metacarpal	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0009658	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:0009658	HP:0010034	Short 1st metacarpal	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0009658	HP:0010034	Short 1st metacarpal	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0009658	HP:0010034	Short 1st metacarpal	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009658	HP:0010034	Short 1st metacarpal	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009658	HP:0009650	Short distal phalanx of the thumb	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0009658	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:0009658	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:0009658	HP:0010034	Short 1st metacarpal	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009658	HP:0010035	Aplasia of the 1st metacarpal	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125