TaoMedAI/RareMedData huggingface dataset:
Gene: ALDOB
Phenotype: Fructose intolerance (HP:0005973)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Transient aminoaciduria (HP:0008273)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Bicarbonaturia (HP:0003646)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Glycosuria (HP:0003076)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Malnutrition (HP:0004395)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Jaundice (HP:0000952)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Cataract (HP:0000518)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Reduced circulating aldolase concentration (HP:0012545)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALK
Phenotype: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Headache (HP:0002315)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Pruritus (HP:0000989)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Dry skin (HP:0000958)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: ALK
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: ALOX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: ALOX5
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: ALOX5
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: ALOX5
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: ALOX5
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: ALOX5AP
Phenotype: Stroke (HP:0001297)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: ALOX5AP
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: ALOX5AP
Phenotype: Adult onset (HP:0003581)
Associated disease: STROKE, ISCHEMIC (OMIM:601367)
Gene: ALOX12B
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: ALOX12B
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Paralysis (HP:0003470)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: ALOX12B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Short finger (HP:0009381)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Alopecia (HP:0001596)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Growth delay (HP:0001510)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOX12B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOX12B
Phenotype: Small nail (HP:0001792)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Short toe (HP:0001831)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOX12B
Phenotype: Thin nail (HP:0001816)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALPL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Waddling gait (HP:0002515)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Stillbirth (HP:0003826)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)