Phenotype: Abnormal anus morphology (HP:0034915)
Associated genes and diseases:
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: RFX6
disease_id: OMIM:615710
disease_name: MITCHELL-RILEY SYNDROME
gene_symbol: CDK8
disease_id: OMIM:618748
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: RRAS2
disease_id: OMIM:618624
disease_name: NOONAN SYNDROME 12
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: KYNU
disease_id: OMIM:617661
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
gene_symbol: DLL1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: FGF8
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: SIX3
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: TGIF1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: NODAL
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: SHH
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: ZIC2
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: STIL
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: GAS1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: DISP1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: GLI2
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: FOXH1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: CRIPTO
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: PTCH1
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: CDON
disease_id: ORPHA:280195
disease_name: Septopreoptic holoprosencephaly
Septopreoptic HPE
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: ESCO2
disease_id: ORPHA:2319
disease_name: Juberg-Hayward syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
gene_symbol: ESCO2
disease_id: OMIM:216100
disease_name: JUBERG-HAYWARD SYNDROME
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: ATN1
disease_id: OMIM:618494
disease_name: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: GLI3
disease_id: OMIM:174200
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A1
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: FOXF1
disease_id: ORPHA:210122
disease_name: Congenital alveolar capillary dysplasia
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: NBN
disease_id: ORPHA:647
disease_name: Nijmegen breakage syndrome
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
NBS
Seemanova syndrome type 2
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
gene_symbol: TWIST2
disease_id: ORPHA:1807
disease_name: Focal facial dermal dysplasia type III
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis 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: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: MKKS
disease_id: OMIM:236700
disease_name: MCKUSICK-KAUFMAN SYNDROME
gene_symbol: MKKS
disease_id: ORPHA:2473
disease_name: McKusick-Kaufman syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL 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: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:2307
disease_name: IVIC syndrome
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
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: PQBP1
disease_id: ORPHA:93950
disease_name: X-linked intellectual disability, Sutherland-Haan type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: UBR1
disease_id: ORPHA:2315
disease_name: Johanson-Blizzard syndrome
JBS
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: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
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: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: HSPA9
disease_id: OMIM:616854
disease_name: EVEN-PLUS SYNDROME
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: CDH1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: CTNND1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: RECQL4
disease_id: ORPHA:1225
disease_name: Baller-Gerold syndrome
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA 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: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
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: BRCA2
disease_id: OMIM:605724
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
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: 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: RAD51
disease_id: OMIM:617244
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP R
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: OMIM:613390
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP O
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: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
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: 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: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: ABL1
disease_id: OMIM:617602
disease_name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: MAMLD1
disease_id: ORPHA:95706
disease_name: Non-syndromic posterior hypospadias
Hypospadias, severe form
Perineal, scrotal or penoscrotal hypospadias
gene_symbol: AR
disease_id: ORPHA:95706
disease_name: Non-syndromic posterior hypospadias
Hypospadias, severe form
Perineal, scrotal or penoscrotal hypospadias
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
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: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
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: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: SPINT2
disease_id: OMIM:270420
disease_name: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
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: 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: DACT1
disease_id: ORPHA:63260
disease_name: Craniorachischisis
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: TNRC6B
disease_id: OMIM:619243
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
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: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
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: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
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
gene_symbol: HOXD13
disease_id: ORPHA:887
disease_name: VACTERL/VATER association
VACTERL association
VATER association
Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: GDF3
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: GDF6
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: MEOX1
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
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: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: FREM1
disease_id: ORPHA:2717
disease_name: Oculotrichoanal syndrome
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
gene_symbol: FREM1
disease_id: ORPHA:217266
disease_name: BNAR syndrome
Bifid nose with or without anorectal and renal anomalies
gene_symbol: FREM1
disease_id: OMIM:248450
disease_name: MANITOBA OCULOTRICHOANAL SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: FOXC1
disease_id: ORPHA:782
disease_name: Axenfeld-Rieger syndrome
Axenfeld syndrome
Rieger syndrome
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: NCF4
disease_id: OMIM:613960
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: IL10RA
disease_id: OMIM:613148
disease_name: INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
gene_symbol: IKZF3
disease_id: OMIM:619437
disease_name: IMMUNODEFICIENCY 84
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: IL10RB
disease_id: OMIM:612567
disease_name: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type