TaoMedAI/RareMedData huggingface dataset:
Phenotype: Hemangioblastoma (HP:0010797)
Associated genes and diseases:
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: KIF1B
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: NF1
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHC
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHB
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
Phenotype: Brainstem glioma (HP:0010796)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Cerebellar glioma (HP:0010795)
Associated genes and diseases:
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Pinealoma (HP:0010799)
Associated genes and diseases:
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
Phenotype: Scapulohumeral synostosis (HP:0006595)
Associated genes and diseases:
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
Phenotype: Hyperplasia of the Leydig cells (HP:0010791)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: FSHB
disease_id: ORPHA:52901
disease_name: Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency
Phenotype: Hypoplasia of the Leydig cells (HP:0010790)
Associated genes and diseases:
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
Phenotype: Expanded metatarsals with widened medullary cavities (HP:0008102)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
Phenotype: Delayed tarsal ossification (HP:0008103)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: MATN3
disease_id: OMIM:607078
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Phenotype: Bipartite calcaneus (HP:0008127)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
Phenotype: Broad metatarsal (HP:0001783)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:1540
disease_name: Jackson-Weiss syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
gene_symbol: FGFR2
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL 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: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated genes and diseases:
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
gene_symbol: LIPH
disease_id: OMIM:604379
disease_name: HYPOTRICHOSIS 7
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: RPL21
disease_id: OMIM:615885
disease_name: HYPOTRICHOSIS 12
gene_symbol: KRT71
disease_id: OMIM:615896
disease_name: HYPOTRICHOSIS 13
gene_symbol: ZNF141
disease_id: OMIM:615226
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A6
gene_symbol: KRT74
disease_id: OMIM:613981
disease_name: HYPOTRICHOSIS 3
gene_symbol: KRT74
disease_id: OMIM:614929
disease_name: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
gene_symbol: EPS8L3
disease_id: OMIM:612841
disease_name: HYPOTRICHOSIS 5
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
Phenotype: Plantar crease between first and second toes (HP:0008107)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the tarsal bones (HP:0008363)
Associated genes and diseases:
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: LMBR1
disease_id: OMIM:200500
disease_name: ACHEIROPODY
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
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
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated genes and diseases:
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
Phenotype: Equinovarus deformity (HP:0008110)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: SCYL2
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: COL25A1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: ERGIC1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Phenotype: Broad distal hallux (HP:0008111)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
Phenotype: Plantar flexion contracture (HP:0008112)
Associated genes and diseases:
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
Phenotype: Multiple plantar creases (HP:0008113)
Associated genes and diseases:
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
Phenotype: Metatarsal diaphyseal endosteal sclerosis (HP:0008114)
Associated genes and diseases:
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
Phenotype: Clinodactyly of the 3rd toe (HP:0008115)
Associated genes and diseases:
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Phenotype: Flexion limitation of toes (HP:0008116)
Associated genes and diseases:
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
Phenotype: Shortening of the talar neck (HP:0008117)
Associated genes and diseases:
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
Phenotype: Deformed tarsal bones (HP:0008119)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: COL1A2
disease_id: OMIM:225320
disease_name: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
gene_symbol: HOXD10
disease_id: OMIM:192950
disease_name: VERTICAL TALUS, CONGENITAL
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: MET
disease_id: OMIM:620019
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 11
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: GDF5
disease_id: OMIM:228900
disease_name: DU PAN SYNDROME
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: COL1A2
disease_id: OMIM:225320
disease_name: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
gene_symbol: HOXD10
disease_id: OMIM:192950
disease_name: VERTICAL TALUS, CONGENITAL
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: MET
disease_id: OMIM:620019
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 11
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
Phenotype: Calcaneonavicular fusion (HP:0008122)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
Phenotype: Talipes calcaneovarus (HP:0008124)
Associated genes and diseases:
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: FBN1
disease_id: ORPHA:284979
disease_name: Neonatal Marfan syndrome
Neonatal MFS
Phenotype: Second metatarsal posteriorly placed (HP:0008125)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated genes and diseases:
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome