TaoMedAI/RareMedData huggingface dataset:
Gene: LMOD3
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: LMOD3
Phenotype: Premature birth (HP:0001622)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: LMOD3
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: LMOD3
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Gene: BTNL2
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Clubbing (HP:0001217)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Bone cyst (HP:0012062)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Arthritis (HP:0001369)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Joint swelling (HP:0001386)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Enlargement of parotid gland (HP:0011801)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Emphysema (HP:0002097)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Emphysema (HP:0002097)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Dyspnea (HP:0002094)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Hypothermia (HP:0002045)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Parotitis (HP:0011850)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Adult onset (HP:0003581)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Chest pain (HP:0100749)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Chest pain (HP:0100749)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Facial palsy (HP:0010628)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Skin nodule (HP:0200036)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Skin plaque (HP:0200035)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Scarring (HP:0100699)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Blindness (HP:0000618)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Fever (HP:0001945)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Anemia (HP:0001903)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Cough (HP:0012735)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Heart block (HP:0012722)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Chylothorax (HP:0010310)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Alopecia (HP:0001596)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal reproductive system morphology (HP:0012243)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Enlarged lacrimal glands (HP:0007734)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Fatigue (HP:0012378)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal nasal mucosa morphology (HP:0000433)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Cataract (HP:0000518)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Weight loss (HP:0001824)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Uveitis (HP:0000554)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Gene: BTNL2
Phenotype: Uveitis (HP:0000554)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: BTNL2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: MRAP
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Achalasia (HP:0002571)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Impaired cortisol response to insulin stimulation test (HP:0031076)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Azoospermia (HP:0000027)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hypotension (HP:0002615)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Constipation (HP:0002019)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Abnormal circulating adrenocorticotropin concentration (HP:0011043)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Brain atrophy (HP:0012444)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MRAP
Phenotype: Alacrima (HP:0000522)
Associated disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Gene: MRAP
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: CTNNBL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Vitiligo (HP:0001045)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Decreased proportion of regulatory T cells (HP:0020113)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Absent specific antibody response (HP:0005424)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: CTNNBL1
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Gene: LRRC8A
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: LRRC8A
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)