TaoMedAI/RareMedData huggingface dataset:
Gene: CHST3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Short neck (HP:0000470)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Webbed neck (HP:0000465)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Pes planus (HP:0001763)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CHST3
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Sandal gap (HP:0001852)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Proptosis (HP:0000520)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CHST3
Phenotype: Esotropia (HP:0000565)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ATG5
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Nonprogressive (HP:0003680)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: ATG5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Gene: MAPK8IP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: MAPK8IP1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: MAPK8IP1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: MAPK8IP1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: MAPK8IP1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PIGL
Phenotype: Large hands (HP:0001176)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Brachydactyly (HP:0001156)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Pulmonary valve atresia (HP:0010882)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Seizure (HP:0001250)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Hypotonia (HP:0001252)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Low-set nipples (HP:0002562)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Violent behavior (HP:0008760)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Tall stature (HP:0000098)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Open mouth (HP:0000194)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Cleft palate (HP:0000175)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cleft palate (HP:0000175)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Osteolysis (HP:0002797)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Wide mouth (HP:0000154)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cleft lip (HP:0410030)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Gait ataxia (HP:0002066)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Broad-based gait (HP:0002136)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Infantile onset (HP:0003593)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Fine hair (HP:0002213)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Fine hair (HP:0002213)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)