TaoMedAI/RareMedData huggingface dataset:
Gene: TSEN15
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Poor suck (HP:0002033)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Babinski sign (HP:0003487)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Apnea (HP:0002104)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Irritability (HP:0000737)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Widened cerebellar subarachnoid space (HP:0012765)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: APOA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: APOA5
Phenotype: Increased VLDL cholesterol concentration (HP:0003362)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Increased VLDL cholesterol concentration (HP:0003362)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: APOA5
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: APOA5
Phenotype: Atheroeruptive xanthoma (HP:0001039)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: APOA5
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Gene: APOA5
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: APOA5
Phenotype: Increased circulating chylomicron concentration (HP:0012238)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Gene: MED12L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Long fingers (HP:0100807)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Motor delay (HP:0001270)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Seizure (HP:0001250)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Hypospadias (HP:0000047)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Open mouth (HP:0000194)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Constipation (HP:0002019)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Upper eyelid edema (HP:0012724)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Anxiety (HP:0000739)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: High forehead (HP:0000348)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Short philtrum (HP:0000322)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Triangular face (HP:0000325)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Pointed chin (HP:0000307)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Strabismus (HP:0000486)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Pes planus (HP:0001763)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: MED12L
Phenotype: Myopia (HP:0000545)
Associated disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Gene: CATSPER1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER1
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: CATSPER2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Abnormal sperm tail morphology (HP:0012868)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Male infertility (HP:0003251)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: CATSPER2
Phenotype: Male infertility (HP:0003251)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: CATSPER2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: CATSPER2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: CATSPER2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: SCGB3A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: SCGB3A2
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: SCGB3A2
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: SCGB3A2
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: SCGB3A2
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TMC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Gene: TMC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
Gene: TMC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Gene: TMC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
Gene: TMC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Gene: TMC1
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
Gene: TMC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
Gene: TMC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Gene: TMC1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Gene: TWIST2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Microtia (HP:0008551)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Absent nipple (HP:0002561)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Micropenis (HP:0000054)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Short upper lip (HP:0000188)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Wide mouth (HP:0000154)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Wide mouth (HP:0000154)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Absent lower eyelashes (HP:0007646)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Anal atresia (HP:0002023)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Anal atresia (HP:0002023)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Fine hair (HP:0002213)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)