TaoMedAI/RareMedData huggingface dataset:
Phenotype: Perianal erythema (HP:0033195)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated genes and diseases:
gene_symbol: PMP22
disease_id: ORPHA:640
disease_name: Hereditary neuropathy with liability to pressure palsies
Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
gene_symbol: FHL1
disease_id: OMIM:300696
disease_name: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: DES
disease_id: OMIM:181400
disease_name: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
Phenotype: Cone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
Phenotype: Enlarged epiphyses of the proximal phalanges of the hand (HP:0010271)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275)
Associated genes and diseases:
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
Phenotype: Triangular epiphyses of the proximal phalanges of the hand (HP:0010278)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Hyperplasia of midface (HP:0012371)
Associated genes and diseases:
gene_symbol: STRADA
disease_id: OMIM:611087
disease_name: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY
gene_symbol: COL9A1
disease_id: OMIM:614134
disease_name: STICKLER SYNDROME, TYPE IV
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated genes and diseases:
gene_symbol: ACTA1
disease_id: ORPHA:97240
disease_name: Zebra body myopathy
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: PHKA1
disease_id: OMIM:300559
disease_name: GLYCOGEN STORAGE DISEASE, TYPE IXd
gene_symbol: COL6A2
disease_id: OMIM:620727
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
gene_symbol: COL6A2
disease_id: OMIM:620725
disease_name: BETHLEM MYOPATHY 1B
gene_symbol: POPDC3
disease_id: OMIM:618848
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26
gene_symbol: MEGF10
disease_id: OMIM:614399
disease_name: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: MLIP
disease_id: OMIM:620138
disease_name: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS
gene_symbol: SGCG
disease_id: OMIM:253700
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5
gene_symbol: SGCA
disease_id: OMIM:608099
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated genes and diseases:
gene_symbol: ACTA1
disease_id: ORPHA:97240
disease_name: Zebra body myopathy
gene_symbol: DNAJB6
disease_id: ORPHA:34516
disease_name: DNAJB6-related limb-girdle muscular dystrophy D1
Autosomal dominant limb-girdle muscular dystrophy type 1D
DNAJB6-related LGMD D1
LGMD type 1D
LGMD1D
Limb-girdle muscular dystrophy type 1D
gene_symbol: FHL1
disease_id: OMIM:300695
disease_name: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
gene_symbol: TTN
disease_id: OMIM:603689
disease_name: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE
gene_symbol: KLHL40
disease_id: OMIM:615348
disease_name: NEMALINE MYOPATHY 8
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: FLNC
disease_id: OMIM:609524
disease_name: MYOPATHY, MYOFIBRILLAR, 5
gene_symbol: MYOT
disease_id: OMIM:609200
disease_name: MYOPATHY, MYOFIBRILLAR, 3
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: LDB3
disease_id: OMIM:609452
disease_name: MYOPATHY, MYOFIBRILLAR, 4
Phenotype: Generalized muscular appearance from birth (HP:0003716)
Associated genes and diseases:
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
Phenotype: Muscle mounding (HP:0003719)
Associated genes and diseases:
gene_symbol: CAV3
disease_id: OMIM:606072
disease_name: RIPPLING MUSCLE DISEASE 2
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
Phenotype: Cleft lower lip (HP:0010281)
Associated genes and diseases:
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated genes and diseases:
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated genes and diseases:
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
Phenotype: Oral synechia (HP:0010285)
Associated genes and diseases:
gene_symbol: TGDS
disease_id: ORPHA:1388
disease_name: Catel-Manzke syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated genes and diseases:
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: OGDH
disease_id: ORPHA:31
disease_name: Oxoglutaric aciduria
Alpha-ketoglutarate dehydrogenase deficiency
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
gene_symbol: IRF6
disease_id: ORPHA:888
disease_name: Van der Woude syndrome
Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS
gene_symbol: GRHL3
disease_id: ORPHA:888
disease_name: Van der Woude syndrome
Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: ATP2A2
disease_id: OMIM:124200
disease_name: DARIER-WHITE DISEASE
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: SHARPIN
disease_id: OMIM:620795
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: PLAG1
disease_id: OMIM:181030
disease_name: SALIVARY GLAND ADENOMA, PLEOMORPHIC
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Cleft maxillary alveolar ridge (HP:0010289)
Associated genes and diseases:
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: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
Phenotype: Pear-shaped nose (HP:0000447)
Associated genes and diseases:
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
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: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
Phenotype: Generalized muscle hypertrophy (HP:0003720)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:99735
disease_name: Myotonia permanens
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated genes and diseases:
gene_symbol: FKRP
disease_id: OMIM:606612
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: UNC45B
disease_id: OMIM:619178
disease_name: MYOFIBRILLAR MYOPATHY 11
gene_symbol: TPM3
disease_id: OMIM:609284
disease_name: NEMALINE MYOPATHY 1
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRIM32
disease_id: OMIM:254110
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
gene_symbol: ACTB
disease_id: ORPHA:64755
disease_name: Becker nevus syndrome
Becker melanosis
Becker naevus syndrome
Pigmentary hairy epidermal nevus
Pigmented hairy epidermal naevus
Pigmented hairy epidermal nevus
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1
gene_symbol: SGCB
disease_id: OMIM:604286
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
gene_symbol: LMNA
disease_id: ORPHA:98856
disease_name: Charcot-Marie-Tooth disease type 2B1
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: DES
disease_id: OMIM:181400
disease_name: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
gene_symbol: SMN1
disease_id: OMIM:253400
disease_name: SPINAL MUSCULAR ATROPHY, TYPE III
gene_symbol: SMN2
disease_id: OMIM:253400
disease_name: SPINAL MUSCULAR ATROPHY, TYPE III
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
Phenotype: Firm muscles (HP:0003725)
Associated genes and diseases:
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
Phenotype: Late-onset distal muscle weakness (HP:0003810)
Associated genes and diseases:
gene_symbol: NEB
disease_id: OMIM:256030
disease_name: NEMALINE MYOPATHY 2
gene_symbol: ACTA1
disease_id: OMIM:161800
disease_name: NEMALINE MYOPATHY 3
Phenotype: Enteroviral dermatomyositis syndrome (HP:0003729)
Associated genes and diseases:
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
Phenotype: Triangular nasal tip (HP:0000451)
Associated genes and diseases:
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
Phenotype: Short hard palate (HP:0010290)
Associated genes and diseases:
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: SNRPB
disease_id: ORPHA:1393
disease_name: Cerebrocostomandibular syndrome
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
Phenotype: Prominent palatine ridges (HP:0010291)
Associated genes and diseases:
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
Phenotype: Absent uvula (HP:0010292)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: PI4KA
disease_id: OMIM:616531
disease_name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: PI4KA
disease_id: OMIM:616531
disease_name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES