TaoMedAI/RareMedData huggingface dataset:
Gene: SOX10
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Growth delay (HP:0001510)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Anosmia (HP:0000458)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Anosmia (HP:0000458)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Anosmia (HP:0000458)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Torticollis (HP:0000473)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Pes cavus (HP:0001761)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Short-segment aganglionic megacolon (HP:0011284)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Long-segment aganglionic megacolon (HP:0011285)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Alacrima (HP:0000522)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Telecanthus (HP:0000506)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Myopia (HP:0000545)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX11
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Open mouth (HP:0000194)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Poor suck (HP:0002033)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Midface retrusion (HP:0011800)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Renal malrotation (HP:0004712)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Low hanging columella (HP:0009765)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Childhood onset (HP:0011463)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Short nose (HP:0003196)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Long nose (HP:0003189)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Full cheeks (HP:0000293)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Clinodactyly (HP:0030084)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Growth delay (HP:0001510)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Short chin (HP:0000331)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Ptosis (HP:0000508)
Associated disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Gene: SOX11
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SOX11
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SPAG1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 28 (OMIM:615505)
Gene: SPAG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 28 (OMIM:615505)
Gene: SPAG1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 28 (OMIM:615505)
Gene: SPAG1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SPAG1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)