TaoMedAI/RareMedData huggingface dataset:
Phenotype: Intestinal edema (HP:0005225)
Associated genes and diseases:
gene_symbol: SERPING1
disease_id: ORPHA:100050
disease_name: Hereditary angioedema type 1
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: F12
disease_id: OMIM:610618
disease_name: ANGIOEDEMA, HEREDITARY, TYPE III
Phenotype: Rosenthal fibers (HP:0100320)
Associated genes and diseases:
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: GFAP
disease_id: ORPHA:363717
disease_name: Alexander disease type I
AxD type I
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated genes and diseases:
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: SLC20A2
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: XPR1
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: ATN1
disease_id: OMIM:125370
disease_name: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
Phenotype: Scleroderma (HP:0100324)
Associated genes and diseases:
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:619793
disease_name: RESTRICTIVE DERMOPATHY 2
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Phenotype: Metacarpophalangeal synostosis (HP:0005880)
Associated genes and diseases:
gene_symbol: NOG
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: NOG
disease_id: OMIM:185800
disease_name: SYMPHALANGISM, PROXIMAL, 1A
gene_symbol: GDF5
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
Phenotype: Cow milk allergy (HP:0100327)
Associated genes and diseases:
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Jejunoileal ulceration (HP:0005229)
Associated genes and diseases:
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
Phenotype: Facial hyperostosis (HP:0005465)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: AMER1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
Phenotype: Aged leonine appearance (HP:0008509)
Associated genes and diseases:
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
Phenotype: Chronic gastritis (HP:0005231)
Associated genes and diseases:
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Pancreatic dysplasia (HP:0005232)
Associated genes and diseases:
gene_symbol: NEK8
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: NPHP3
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
Phenotype: Jejunal atresia (HP:0005235)
Associated genes and diseases:
gene_symbol: MYCN
disease_id: ORPHA:391641
disease_name: Feingold syndrome type 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: RFX6
disease_id: OMIM:615710
disease_name: MITCHELL-RILEY SYNDROME
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: CENPF
disease_id: OMIM:243605
disease_name: STROMME SYNDROME
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: MIR17HG
disease_id: ORPHA:391646
disease_name: Feingold syndrome type 2
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
Phenotype: Chronic calcifying pancreatitis (HP:0005236)
Associated genes and diseases:
gene_symbol: CTRC
disease_id: ORPHA:103918
disease_name: Tropical pancreatitis
TCP
Tropical calcific chronic pancreatitis
gene_symbol: SPINK1
disease_id: ORPHA:103918
disease_name: Tropical pancreatitis
TCP
Tropical calcific chronic pancreatitis
Phenotype: Unilateral cleft lip (HP:0100333)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: HYLS1
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: KIF7
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: SUMO1
disease_id: OMIM:613705
disease_name: OROFACIAL CLEFT 10
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
Phenotype: Unilateral cleft palate (HP:0100334)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: SUMO1
disease_id: OMIM:613705
disease_name: OROFACIAL CLEFT 10
gene_symbol: RIC1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: NECTIN1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLG1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: CDH1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: PDGFRA
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: IRF6
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLX4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: MSX1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: BMP4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: TP63
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: COBLL1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGEF38
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGAP29
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
Phenotype: Bilateral cleft lip (HP:0100336)
Associated genes and diseases:
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: RAB5IF
disease_id: OMIM:616994
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
Phenotype: Biliary tract obstruction (HP:0005230)
Associated genes and diseases:
gene_symbol: ABCB4
disease_id: ORPHA:69663
disease_name: Low phospholipid-associated cholelithiasis
ABCB4-related cholelithiasis
LPAC
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
Phenotype: Central posterior corneal opacity (HP:0008511)
Associated genes and diseases:
gene_symbol: TGFBI
disease_id: ORPHA:98964
disease_name: Lattice corneal dystrophy type I
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: EDN1
disease_id: OMIM:615706
disease_name: AURICULOCONDYLAR SYNDROME 3
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
Phenotype: Abnormality of the vertebral spinous processes (HP:0008516)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
Phenotype: Aplasia/Hypoplasia of the sacrum (HP:0008517)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
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: VANGL1
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: FUZ
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: TBXT
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: VANGL2
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
Phenotype: Abnormal coccyx morphology (HP:0008519)
Associated genes and diseases:
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
Phenotype: Total intestinal aganglionosis (HP:0005241)
Associated genes and diseases:
gene_symbol: EDNRB
disease_id: OMIM:600501
disease_name: ABCD SYNDROME
Phenotype: Extrahepatic biliary duct atresia (HP:0005242)
Associated genes and diseases:
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
Phenotype: Partial abdominal muscle agenesis (HP:0005243)
Associated genes and diseases:
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: CALR
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: JAK2
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: F5
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: TEK
disease_id: ORPHA:1059
disease_name: Blue rubber bleb nevus
BRBN
Bean syndrome
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
Phenotype: Hypoplasia of the abdominal wall musculature (HP:0005247)
Associated genes and diseases:
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: MANBA
disease_id: ORPHA:118
disease_name: Beta-mannosidosis
Beta-mannosidase deficiency