TaoMedAI/RareMedData huggingface dataset:
Gene: FOXP2
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Galactosuria (HP:0012023)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Abnormality of von Willebrand factor (HP:0012146)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Wide mouth (HP:0000154)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Dysphagia (HP:0002015)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Asthma (HP:0002099)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Esodeviation (HP:0020045)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Drooling (HP:0002307)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Enlarged cochlear aqueduct (HP:0011388)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hypoplasia of the semicircular canal (HP:0011382)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Short attention span (HP:0000736)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Childhood onset sensorineural hearing impairment (HP:0011474)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Speech apraxia (HP:0011098)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Torticollis (HP:0000473)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Prominent nose (HP:0000448)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Telecanthus (HP:0000506)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: PIGS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Ataxia (HP:0001251)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Inability to walk (HP:0002540)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Absent speech (HP:0001344)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Scoliosis (HP:0002650)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Macroglossia (HP:0000158)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Constipation (HP:0002019)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Deep philtrum (HP:0002002)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Short digit (HP:0011927)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Nystagmus (HP:0000639)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Long nose (HP:0003189)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Thickened helices (HP:0000391)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Short chin (HP:0000331)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Visual impairment (HP:0000505)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: PIGS
Phenotype: Vertical forehead creases (HP:0011221)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Gene: MUC16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MUC16
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MUC16
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MUC16
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MUC16
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MUC16
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RP1L1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP1L1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RP1L1
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated disease: OCCULT MACULAR DYSTROPHY (OMIM:613587)
Gene: RP1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 88 (OMIM:618826)
Gene: RP1L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RP1L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCCULT MACULAR DYSTROPHY (OMIM:613587)
Gene: RP1L1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)