Phenotype: Aplasia/Hypoplasia of toe (HP:0001991)
Associated genes and diseases:
gene_symbol: ALOXE3
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALOX12B
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:616651
disease_name: ROIFMAN SYNDROME
gene_symbol: GDF5
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: BMPR1B
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: FGFR3
disease_id: ORPHA:429
disease_name: Hypochondroplasia
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: SHOX
disease_id: OMIM:127300
disease_name: LERI-WEILL DYSCHONDROSTEOSIS
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: NOG
disease_id: ORPHA:140908
disease_name: Brachydactyly type B2
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: TNNT3
disease_id: OMIM:618435
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B2
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: BMP2
disease_id: OMIM:617877
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: GJA1
disease_id: ORPHA:93404
disease_name: Syndactyly type 3
SD3
Syndactyly of fingers 4 and 5
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: WNT10B
disease_id: OMIM:225300
disease_name: SPLIT-HAND/FOOT MALFORMATION 6
gene_symbol: WNT7A
disease_id: OMIM:228930
disease_name: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: DLX5
disease_id: OMIM:183600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: GLI3
disease_id: ORPHA:93322
disease_name: Isolated tibial hemimelia
Isolated congenital absence of tibia
Isolated congenital aplasia and dysplasia of the tibia with intact fibula
Isolated congenital longitudinal deficiency of the tibia
Isolated tibial longitudinal meromelia
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: HOXA13
disease_id: OMIM:176305
disease_name: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: PTHLH
disease_id: ORPHA:93387
disease_name: Brachydactyly type E
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: ACVR1
disease_id: OMIM:135100
disease_name: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
gene_symbol: ACVR1
disease_id: ORPHA:337
disease_name: Fibrodysplasia ossificans progressiva
FOP
Myositis ossificans progressiva
Stone man syndrome
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: BHLHA9
disease_id: ORPHA:157801
disease_name: Mesoaxial synostotic syndactyly with phalangeal reduction
MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: IHH
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: RIPK4
disease_id: ORPHA:1234
disease_name: Bartsocas-Papas syndrome
Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: LMBR1
disease_id: OMIM:200500
disease_name: ACHEIROPODY
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: RBPJ
disease_id: OMIM:614814
disease_name: ADAMS-OLIVER SYNDROME 3
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: ARHGAP31
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME