TaoMedAI/RareMedData huggingface dataset:
Gene: CEP19
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Azoospermia (HP:0000027)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Infertility (HP:0000789)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Insulin resistance (HP:0000855)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypertension (HP:0000822)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Obesity (HP:0001513)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Gene: CEP19
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP19
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP19
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COX14
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: COX14
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Gene: PIGY
Phenotype: Adducted thumb (HP:0001181)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Echogenic fetal bowel (HP:0010943)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Thickened ears (HP:0009894)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Death in childhood (HP:0003819)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Large earlobe (HP:0009748)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Developmental regression (HP:0002376)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)