TaoMedAI/RareMedData huggingface dataset:
Gene: TBX18
Phenotype: Middle age onset (HP:0003596)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Fetal onset (HP:0011461)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: TBX18
Phenotype: Flank pain (HP:0030157)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Gene: USP8
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Clonus (HP:0002169)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Paranoia (HP:0011999)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Poor wound healing (HP:0001058)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Plethora (HP:0001050)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Capillary fragility (HP:0025017)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Striae distensae (HP:0001065)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Acne (HP:0001061)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Facial erythema (HP:0001041)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Hirsutism (HP:0001007)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Hirsutism (HP:0001007)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Memory impairment (HP:0002354)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Headache (HP:0002315)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Alkalosis (HP:0001948)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Increased body weight (HP:0004324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Depression (HP:0000716)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Emotional lability (HP:0000712)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Emotional lability (HP:0000712)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Dementia (HP:0000726)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Psychosis (HP:0000709)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Hypertension (HP:0000822)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Purpura (HP:0000979)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Edema (HP:0000969)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Thin skin (HP:0000963)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Kyphosis (HP:0002808)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Ecchymosis (HP:0031364)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Obesity (HP:0001513)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Hypokalemia (HP:0002900)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: USP8
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPG59; Autosomal recessive spastic paraplegia type 59 (ORPHA:401795)
Gene: USP8
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: FCGR2C
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Liver kidney microsome type 1 antibody positivity (HP:0030908)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Hemorrhage of the eye (HP:0011885)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-islet antigen-2 antibody positivity (HP:0034063)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-insulin antibody positivity (HP:0034062)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Hematuria (HP:0000790)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Abnormal vaginal bleeding (HP:0034263)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Anti-platelet antigen antibody positivity (HP:4000170)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Purpura (HP:0000979)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Petechiae (HP:0000967)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Epistaxis (HP:0000421)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: FCGR2C
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ITP; Immune thrombocytopenia; Immune thrombocytopenic purpura (ORPHA:3002)
Gene: SMC3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Poor speech (HP:0002465)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Seizure (HP:0001250)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Seizure (HP:0001250)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Volvulus (HP:0002580)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)