TaoMedAI/RareMedData huggingface dataset:
Gene: FASLG
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Abnormal T cell apoptosis (HP:0030886)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Elevated circulating vitamin B12 concentration (HP:6000016)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Elevated circulating soluble FASL concentration (HP:6000017)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Abnormal CD4+ T cell subset proportion (HP:0031392)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Abnormal CD8+ T cell proportion (HP:0031393)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: FASLG
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased HLA DR+ CD4+ T cell proportion (HP:0002853)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Elevated double-negative T cell proportion (HP:0002851)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Elevated double-negative T cell proportion (HP:0002851)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Decreased specific anti-polysaccharide antibody level (HP:0002848)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Gastritis (HP:0005263)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: FASLG
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Autoimmunity (HP:0002960)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Reduced delayed hypersensitivity (HP:0002972)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Panniculitis (HP:0012490)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: FASLG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: FASLG
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Uveitis (HP:0000554)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: FASLG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Gene: AQP2
Phenotype: Seizure (HP:0001250)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Seizure (HP:0001250)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Megacystis (HP:0000021)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Polyuria (HP:0000103)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Constipation (HP:0002019)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Constipation (HP:0002019)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Vomiting (HP:0002013)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Anorexia (HP:0002039)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Hypernatremic dehydration (HP:0004906)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Fever (HP:0001945)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Polydipsia (HP:0001959)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Hypertonic dehydration (HP:0001986)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Short stature (HP:0004322)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Short stature (HP:0004322)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Irritability (HP:0000737)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Hypernatremia (HP:0003228)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Hypernatremia (HP:0003228)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Gene: AQP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP2
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Nephrogenic diabetes insipidus; Arginine vasopressin resistance (ORPHA:223)
Gene: AQP4
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Dysarthria (HP:0001260)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Spasticity (HP:0001257)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Dystonia (HP:0001332)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Dysphagia (HP:0002015)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Rigidity (HP:0002063)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Impulsivity (HP:0100710)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Cerebral subcortical cyst (HP:6000461)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Clumsiness (HP:0002312)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Gene: AQP5
Phenotype: Chronic tinea infection (HP:0032259)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE (OMIM:600231)
Gene: AQP5
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE (OMIM:600231)
Gene: AQP5
Phenotype: Knuckle pad (HP:0032541)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Papule (HP:0200034)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Skin ulcer (HP:0200042)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Erythema (HP:0010783)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Childhood onset (HP:0011463)
Associated disease: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE (OMIM:600231)
Gene: AQP5
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Pruritus (HP:0000989)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AQP5
Phenotype: Ridged nail (HP:0001807)
Associated disease: NEPPK, Bothnia type; NEPPK, Bothnian type; Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type (ORPHA:2337)
Gene: AR
Phenotype: Abnormal circulating estrogen level (HP:0025132)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Aplasia/Hypoplasia of the fallopian tube (HP:0008655)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Dysarthria (HP:0001260)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Absent facial hair (HP:0002550)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Tall stature (HP:0000098)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Micropenis (HP:0000054)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Micropenis (HP:0000054)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Micropenis (HP:0000054)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: HYPOSPADIAS 1, X-LINKED (OMIM:300633)
Gene: AR
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)