TaoMedAI/RareMedData huggingface dataset:
Phenotype: Short face (HP:0011219)
Associated genes and diseases:
gene_symbol: UBB
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: GRHL3
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: FGFR1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: MSX1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: EDARADD
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: PAX9
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: SUMO1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: WNT10A
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: EDA
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: IRF6
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: LRP6
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: GREM2
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: TGFA
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: WNT10B
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
Phenotype: EEG with occipital slowing (HP:0011210)
Associated genes and diseases:
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
Phenotype: Abnormal circulating interleukin 23 concentration (HP:0034170)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 23 concentration (HP:0034171)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Abnormal circulating interleukin 27 concentration (HP:0034173)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 27 concentration (HP:0034174)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Abnormal circulating interleukin 17A concentration (HP:0034176)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 17A concentration (HP:0034177)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Vertebral artery aneurysm (HP:0034179)
Associated genes and diseases:
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
Phenotype: Epiblepharon (HP:0011225)
Associated genes and diseases:
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: TWIST2
disease_id: OMIM:209885
disease_name: BARBER-SAY SYNDROME
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
Phenotype: Ablepharon (HP:0011224)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:616038
disease_name: NEU-LAXOVA SYNDROME 2
gene_symbol: TWIST2
disease_id: ORPHA:1231
disease_name: Barber-Say syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
Phenotype: Metopic depression (HP:0011223)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
Phenotype: Depressed glabella (HP:0011222)
Associated genes and diseases:
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
Phenotype: Vertical forehead creases (HP:0011221)
Associated genes and diseases:
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
Phenotype: Fusion of the caudate and putamen (HP:0034180)
Associated genes and diseases:
gene_symbol: TUBB3
disease_id: OMIM:614039
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
Phenotype: Increased insulin like growth factor binding protein acid labile subunit concentration (HP:0034184)
Associated genes and diseases:
gene_symbol: PAPPA2
disease_id: OMIM:619489
disease_name: SHORT STATURE, DAUBER-ARGENTE TYPE
Phenotype: Median pseudocleft lip (HP:0034185)
Associated genes and diseases:
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Phenotype: Clavicular pseudarthrosis (HP:0034187)
Associated genes and diseases:
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
Phenotype: Midline liver (HP:0034188)
Associated genes and diseases:
gene_symbol: ACVR2B
disease_id: OMIM:613751
disease_name: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
Phenotype: Broad inferior crus of antihelix (HP:0011237)
Associated genes and diseases:
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
Phenotype: Angulated antihelix (HP:0011236)
Associated genes and diseases:
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
Phenotype: Additional crus of antihelix (HP:0011235)
Associated genes and diseases:
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
Phenotype: Absent antihelix (HP:0011234)
Associated genes and diseases:
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
Phenotype: Prominent inferior crus of antihelix (HP:0011238)
Associated genes and diseases:
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
Phenotype: Infra-orbital fold (HP:0011232)
Associated genes and diseases:
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
Phenotype: Prominent eyelashes (HP:0011231)
Associated genes and diseases:
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
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: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated genes and diseases:
gene_symbol: MYCN
disease_id: OMIM:620748
disease_name: MEGALENCEPHALY-POLYDACTYLY SYNDROME
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: MAB21L1
disease_id: OMIM:618479
disease_name: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Phenotype: Intrahepatic biliary dysgenesis (HP:0001401)
Associated genes and diseases:
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated genes and diseases:
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: LIG3
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: OMIM:600649
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: LYRM4
disease_id: OMIM:615595
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: CYP7A1
disease_id: ORPHA:209902
disease_name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Phenotype: Hepatocellular necrosis (HP:0001404)
Associated genes and diseases:
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: NHLRC2
disease_id: OMIM:618278
disease_name: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Phenotype: Periportal fibrosis (HP:0001405)
Associated genes and diseases:
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: ALG9
disease_id: OMIM:263210
disease_name: GILLESSEN-KAESBACH-NISHIMURA SYNDROME
gene_symbol: SLC51B
disease_id: OMIM:619481
disease_name: BILE ACID MALABSORPTION, PRIMARY, 2
gene_symbol: ANKS6
disease_id: OMIM:615382
disease_name: NEPHRONOPHTHISIS 16
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: SLC51A
disease_id: OMIM:619484
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Phenotype: Bile duct proliferation (HP:0001408)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: DCDC2
disease_id: OMIM:616217
disease_name: NEPHRONOPHTHISIS 19
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: CC2D2A
disease_id: OMIM:612284
disease_name: MECKEL SYNDROME, TYPE 6
gene_symbol: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: CEP290
disease_id: OMIM:611134
disease_name: MECKEL SYNDROME, TYPE 4
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: TMEM67
disease_id: OMIM:607361
disease_name: MECKEL SYNDROME, TYPE 3
gene_symbol: CYP7B1
disease_id: OMIM:613812
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
gene_symbol: CYP7B1
disease_id: ORPHA:79302
disease_name: Congenital bile acid synthesis defect type 3
BASD3
Oxysterol 7-alpha-hydroxylase deficiency
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: ABCB11
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ABCB4
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ABCB4
disease_id: OMIM:600803
disease_name: GALLBLADDER DISEASE 1
gene_symbol: ATP8B1
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: RPGRIP1L
disease_id: OMIM:611561
disease_name: MECKEL SYNDROME, TYPE 5
gene_symbol: PHKG2
disease_id: OMIM:613027
disease_name: GLYCOGEN STORAGE DISEASE IXc
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: TMEM216
disease_id: OMIM:603194
disease_name: MECKEL SYNDROME, TYPE 2
Phenotype: Suprabasal cleavage (HP:0034194)
Associated genes and diseases:
gene_symbol: KRT14
disease_id: OMIM:131900
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
Phenotype: Ductus venosus agenesis (HP:0034196)
Associated genes and diseases:
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
Phenotype: Late first trimester onset (HP:0034199)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: TXNDC15
disease_id: OMIM:619879
disease_name: MECKEL SYNDROME 14
gene_symbol: B9D1
disease_id: OMIM:614209
disease_name: MECKEL SYNDROME, TYPE 9
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: PLXND1
disease_id: OMIM:620294
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
Phenotype: Abnormal fetal cardiovascular physiology (HP:0034190)
Associated genes and diseases:
gene_symbol: UQCRFS1
disease_id: OMIM:618775
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
Phenotype: Stratum basale cleavage (HP:0034193)
Associated genes and diseases:
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: KRT14
disease_id: OMIM:601001
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
gene_symbol: KRT14
disease_id: OMIM:131800
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
gene_symbol: KRT14
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
gene_symbol: KRT5
disease_id: OMIM:619555
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE
gene_symbol: KRT5
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
gene_symbol: PLEC
disease_id: OMIM:616487
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
Phenotype: Pulmonary thromboembolism (HP:0034192)
Associated genes and diseases:
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
Phenotype: Prominent superior crus of antihelix (HP:0011247)
Associated genes and diseases:
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
Phenotype: Underdeveloped superior crus of antihelix (HP:0011246)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:300321
disease_name: FG SYNDROME 2
Phenotype: Abnormality of superior crus of antihelix (HP:0011245)
Associated genes and diseases:
gene_symbol: STEEP1
disease_id: OMIM:301013
disease_name: MENTAL RETARDATION, X-LINKED 107
gene_symbol: FLNA
disease_id: OMIM:300321
disease_name: FG SYNDROME 2
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
Phenotype: Prominent stem of antihelix (HP:0011240)
Associated genes and diseases:
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
Phenotype: Abnormality of stem of antihelix (HP:0011244)
Associated genes and diseases:
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
Phenotype: Abnormality of inferior crus of antihelix (HP:0011243)
Associated genes and diseases:
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
Phenotype: Breast intraductal papilloma (HP:6000102)
Associated genes and diseases:
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
Phenotype: Enteroviral hepatitis (HP:0001412)
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