TaoMedAI/RareMedData huggingface dataset:
Gene: AIP
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Synophrys (HP:0000664)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Impotence (HP:0000802)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Impotence (HP:0000802)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Anxiety (HP:0000739)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Depression (HP:0000716)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Emotional lability (HP:0000712)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Young adult onset (HP:0011462)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Infertility (HP:0000789)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Broad jaw (HP:0012802)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hypertension (HP:0000822)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Hypertension (HP:0000822)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Hypertension (HP:0000822)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Pallor (HP:0000980)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Purpura (HP:0000979)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Edema (HP:0000969)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Thin skin (HP:0000963)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Full cheeks (HP:0000293)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Long face (HP:0000276)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Arthralgia (HP:0002829)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Kyphosis (HP:0002808)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Kyphosis (HP:0002808)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Decreased female libido (HP:0030018)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Dyspareunia (HP:0030016)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Ecchymosis (HP:0031364)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Obesity (HP:0001513)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Pituitary macroadenoma (HP:0025693)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Fatigue (HP:0012378)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Fatigue (HP:0012378)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hemianopia (HP:0012377)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Intestinal polyp (HP:0005266)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Hypokalemia (HP:0002900)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Broad forehead (HP:0000337)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Gene: AIP
Phenotype: Night sweats (HP:0030166)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Internal ophthalmoplegia (HP:0007942)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Macrotia (HP:0000400)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Restless legs (HP:0012452)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Broad foot (HP:0001769)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Wide nose (HP:0000445)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Gene: AIP
Phenotype: Abnormal pituitary gland morphology (HP:0012503)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Ptosis (HP:0000508)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: AIP
Phenotype: Long foot (HP:0001833)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: AIP
Phenotype: Macrodactyly (HP:0004099)
Associated disease: Acromegaly (ORPHA:963)
Gene: AIP
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Acromegaly (ORPHA:963)
Gene: PSTPIP1
Phenotype: Colitis (HP:0002583)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Proteinuria (HP:0000093)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Arthritis (HP:0001369)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Arthritis (HP:0001369)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Vasculitis (HP:0002633)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Sterile arthritis (HP:0040310)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Diarrhea (HP:0002014)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Cystic acne (HP:0033188)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Acne (HP:0001061)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Acne (HP:0001061)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Cellulitis (HP:0100658)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Myositis (HP:0100614)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Pustule (HP:0200039)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Fever (HP:0001945)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Increased serum zinc (HP:0011424)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Crohn's disease (HP:0100280)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Skin rash (HP:0000988)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Gene: PSTPIP1
Phenotype: Arthralgia (HP:0002829)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Allergy (HP:0012393)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Fatigue (HP:0012378)
Associated disease: FRA; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Familial recurrent arthritis; PAPA syndrome (ORPHA:69126)
Gene: PSTPIP1
Phenotype: Sterile abscess (HP:0025616)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: PSTPIP1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Gene: NFS1
Phenotype: Lethargy (HP:0001254)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hyperamylasemia (HP:0410288)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Anorexia (HP:0002039)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)