TaoMedAI/RareMedData huggingface dataset:
Gene: IRAK4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: CHCHD2
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: CHCHD2
Phenotype: Restless legs (HP:0012452)
Associated disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Gene: SLC45A2
Phenotype: Ocular albinism (HP:0001107)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Nevus (HP:0003764)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Albinism (HP:0001022)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Thickened skin (HP:0001072)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Blue irides (HP:0000635)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Photophobia (HP:0000613)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: White hair (HP:0011364)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Optic nerve misrouting (HP:0025551)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: OCA4; Oculocutaneous albinism type 4 (ORPHA:79435)
Gene: SLC45A2
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: SLC45A2
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Gene: DBR1
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Microtia (HP:0008551)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Seizure (HP:0001250)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Retinopathy of prematurity (HP:0500049)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Erythema (HP:0010783)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Ectropion (HP:0000656)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Dry skin (HP:0000958)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Retrognathia (HP:0000278)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Viral encephalitis (HP:0033993)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Gene: DBR1
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Moderate to late preterm birth (HP:0025664)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Hypoplastic nasal bridge (HP:0005281)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Eclabion (HP:0012472)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DBR1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Gene: DCTN4
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: DCTN4
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: MYO15A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 3 (OMIM:600316)
Gene: MYO15A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 3 (OMIM:600316)
Gene: MYO15A
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 3 (OMIM:600316)
Gene: DCXR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PENTOSURIA (OMIM:260800)
Gene: DCXR
Phenotype: Abnormal urine carbohydrate level (HP:0031979)
Associated disease: Pentosuria; Xylitol dehydrogenase deficiency; Essential pentosuria (ORPHA:2843)
Gene: DCXR
Phenotype: Abnormal circulating enzyme concentration (HP:0011021)
Associated disease: Pentosuria; Xylitol dehydrogenase deficiency; Essential pentosuria (ORPHA:2843)
Gene: DCXR
Phenotype: Abnormal circulating carbohydrate concentration (HP:0011013)
Associated disease: Pentosuria; Xylitol dehydrogenase deficiency; Essential pentosuria (ORPHA:2843)
Gene: DCXR
Phenotype: Elevated urine L-xylulose level (HP:0025742)
Associated disease: PENTOSURIA (OMIM:260800)
Gene: CRBN
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: CRBN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Gene: PLCE1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Gene: PLCE1
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PLCE1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NIN
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: SECKEL SYNDROME 7 (OMIM:614851)
Gene: NIN
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Microcephalic primordial dwarfism, Dauber type (ORPHA:319675)
Gene: NIN
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SECKEL SYNDROME 7 (OMIM:614851)