TaoMedAI/RareMedData huggingface dataset:
Gene: AVP
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Osteopenia (HP:0000938)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Decreased circulating osteocalcin level (HP:0031429)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Wide nose (HP:0000445)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVPR2
Phenotype: Seizure (HP:0001250)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Seizure (HP:0001250)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Megacystis (HP:0000021)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Decreased serum creatinine (HP:0012101)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Polyuria (HP:0000103)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Constipation (HP:0002019)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Constipation (HP:0002019)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Vomiting (HP:0002013)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Anorexia (HP:0002039)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Hypernatremic dehydration (HP:0004906)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Fever (HP:0001945)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Polydipsia (HP:0001959)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Hypertonic dehydration (HP:0001986)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Short stature (HP:0004322)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Short stature (HP:0004322)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Reduced blood urea nitrogen (HP:0031969)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Irritability (HP:0000737)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Irritability (HP:0000737)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Hypernatremia (HP:0003228)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Hypernatremia (HP:0003228)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Gene: AVPR2
Phenotype: Growth delay (HP:0001510)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AVPR2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Gene: AVPR2
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AXL
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: AXL
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: B2M
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Abnormal circulating IgA concentration (HP:0410240)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Decreased specific antibody response to polysaccharide vaccine (HP:0410299)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Organizing pneumonia (HP:0033670)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Multiple bony cystic lesions (HP:0012065)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Decreased circulating beta-2-microglobulin level (HP:0025347)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Abnormal skeletal muscle morphology (HP:0011805)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Dyspnea (HP:0002094)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Cardiovascular calcification (HP:0011915)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Abnormal vascular morphology (HP:0025015)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Lung abscess (HP:0025044)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Knee pain (HP:0030839)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Wrist pain (HP:0030836)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Edema (HP:0000969)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Amyloidosis of peripheral nerves (HP:0100292)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Amyloidosis of peripheral nerves (HP:0100292)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Intestinal perforation (HP:0031368)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Cutaneous amyloidosis (HP:0012309)
Associated disease: Autosomal dominant beta2-microglobulinic amyloidosis; Variant ABeta2M amyloidosis (ORPHA:314652)
Gene: B2M
Phenotype: Radial bowing (HP:0002986)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Chronic constipation (HP:0012450)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: B2M
Phenotype: Early young adult onset (HP:0025708)
Associated disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Gene: B2M
Phenotype: Weight loss (HP:0001824)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Gene: BAAT
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Rickets (HP:0002748)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Infantile onset (HP:0003593)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Jaundice (HP:0000952)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: BAAT
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Gene: NKX3-2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Delayed vertebral ossification (HP:0031096)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Back pain (HP:0003418)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)