Phenotype: Abnormal ureter physiology (HP:0025634)
Associated genes and diseases:
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: HNF1B
disease_id: OMIM:137920
disease_name: RENAL CYSTS AND DIABETES SYNDROME
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
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: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: SLC26A1
disease_id: OMIM:167030
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: SH2B1
disease_id: ORPHA:261222
disease_name: Distal 16p11.2 microdeletion syndrome
Distal del(16)(p11.2)
Distal monosomy 16p11.2
gene_symbol: PAX2
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: PAX2
disease_id: ORPHA:1475
disease_name: Renal coloboma syndrome
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: PBX1
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: PBX1
disease_id: OMIM:617641
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:605192
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 23
gene_symbol: SIX1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: LRIG2
disease_id: OMIM:615112
disease_name: UROFACIAL SYNDROME 2
gene_symbol: LRIG2
disease_id: ORPHA:2704
disease_name: Urofacial syndrome
Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Ochoa facial syndrome
Ochoa syndrome
Partial facial palsy with urinary abnormalities
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: PIGN
disease_id: ORPHA:2059
disease_name: Fryns syndrome
Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: NFIA
disease_id: OMIM:613735
disease_name: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
gene_symbol: EHMT1
disease_id: ORPHA:96147
disease_name: Kleefstra syndrome due to 9q34 microdeletion
9q subtelomeric deletion syndrome
9qSTDS
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: ORPHA:93930
disease_name: Bladder exstrophy
Classic exstrophy of the bladder
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
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: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
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: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
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: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: BICC1
disease_id: OMIM:601331
disease_name: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: HSPA9
disease_id: OMIM:616854
disease_name: EVEN-PLUS SYNDROME
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: ACTG2
disease_id: OMIM:155310
disease_name: VISCERAL MYOPATHY
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: ROBO2
disease_id: OMIM:610878
disease_name: VESICOURETERAL REFLUX 2
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: FANCF
disease_id: OMIM:603467
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP F
gene_symbol: MAPKBP1
disease_id: OMIM:617271
disease_name: NEPHRONOPHTHISIS 20
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: CHRNA3
disease_id: OMIM:191800
disease_name: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
gene_symbol: RECQL4
disease_id: ORPHA:1225
disease_name: Baller-Gerold syndrome
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ISL1
disease_id: ORPHA:93930
disease_name: Bladder exstrophy
Classic exstrophy of the bladder
gene_symbol: DSTYK
disease_id: OMIM:610805
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
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: 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: 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: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: HPSE2
disease_id: ORPHA:2704
disease_name: Urofacial syndrome
Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Ochoa facial syndrome
Ochoa syndrome
Partial facial palsy with urinary abnormalities
gene_symbol: COL18A1
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: PAK2
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: PRMT7
disease_id: ORPHA:464288
disease_name: Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAD21
disease_id: OMIM:611376
disease_name: MUNGAN SYNDROME
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: PPP3CA
disease_id: OMIM:618265
disease_name: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: CCNQ
disease_id: ORPHA:140952
disease_name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
STAR syndrome
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: BNC2
disease_id: OMIM:618612
disease_name: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: SIX5
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: EXT1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: TRPS1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: NRIP1
disease_id: OMIM:618270
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: DACT1
disease_id: OMIM:617466
disease_name: TOWNES-BROCKS SYNDROME 2
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: TNXB
disease_id: OMIM:615963
disease_name: VESICOURETERAL REFLUX 8
gene_symbol: TNXB
disease_id: OMIM:606408
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
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: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: PAX6
disease_id: OMIM:120200
disease_name: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: MED12
disease_id: ORPHA:1415
disease_name: Hardikar syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
HDKR
MED12-related Hardikar syndrome
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: STRA6
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: WNT7B
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: GATA3
disease_id: ORPHA:2237
disease_name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: LTBP1
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: EFEMP2
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: FBLN5
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: COPB2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CIT
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: KIF14
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CEP152
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: WDR62
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TRAPPC14
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: SASS6
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PYCR2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PDCD6IP
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: MFSD2A
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: MCM7
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CEP63
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: METTL5
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: NUP37
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: NCAPD3
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: SARS1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CDK5RAP2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: MCPH1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: STIL
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: ANKLE2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: ASPM
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TRAPPC10
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: WARS1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PHC1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CENPE
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TAF13
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CPAP
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CEP135
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: KNL1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CDK6
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: GREB1L
disease_id: OMIM:617805
disease_name: RENAL HYPODYSPLASIA/APLASIA 3
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: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: GRHPR
disease_id: ORPHA:93599
disease_name: Primary hyperoxaluria type 2
D-glycerate dehydrogenase deficiency
L-glyceric aciduria
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES