TaoMedAI/RareMedData huggingface dataset:
Gene: ATRX
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Seizure (HP:0001250)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Volvulus (HP:0002580)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Hypotonia (HP:0001252)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Spasticity (HP:0001257)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Slender finger (HP:0001238)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Small scrotum (HP:0000046)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Flexion contracture (HP:0001371)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
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: ATRX
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Micropenis (HP:0000054)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Joint stiffness (HP:0001387)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Hypospadias (HP:0000047)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Coxa valga (HP:0002673)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Scoliosis (HP:0002650)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Hypotension (HP:0002615)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Short upper lip (HP:0000188)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Macroglossia (HP:0000158)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Macroglossia (HP:0000158)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Macroglossia (HP:0000158)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Hypogonadism (HP:0000135)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Floppy infant (HP:0008947)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Floppy infant (HP:0008947)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Renal agenesis (HP:0000104)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Constipation (HP:0002019)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Constipation (HP:0002019)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Constipation (HP:0002019)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Poor suck (HP:0002033)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Vomiting (HP:0002013)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Midface retrusion (HP:0011800)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
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: ATRX
Phenotype: Dyspnea (HP:0002094)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Anorexia (HP:0002039)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Abnormality of the male genitalia (HP:0010461)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
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: ATRX
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME (OMIM:300448)
Gene: ATRX
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME (OMIM:300448)
Gene: ATRX
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
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: ATRX
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Melena (HP:0002249)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Hematemesis (HP:0002248)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Paranoia (HP:0011999)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME (OMIM:300448)
Gene: ATRX
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Aphasia (HP:0002381)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Plethora (HP:0001050)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Capillary fragility (HP:0025017)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Acne (HP:0001061)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Dermatological manifestations of systemic disorders (HP:0001005)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Hirsutism (HP:0001007)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Memory impairment (HP:0002354)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Headache (HP:0002315)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Protruding tongue (HP:0010808)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)