TaoMedAI/RareMedData huggingface dataset:
Gene: ATRX
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
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: ATRX
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Palpitations (HP:0001962)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
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: ATRX
Phenotype: Blindness (HP:0000618)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Anemia (HP:0001903)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
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: ATRX
Phenotype: Diastema (HP:0000699)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Abnormal fontanelle morphology (HP:0011328)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Increased body weight (HP:0004324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Poor appetite (HP:0004396)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Bowel urgency (HP:0012701)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Depression (HP:0000716)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Depression (HP:0000716)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Autism (HP:0000717)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Emotional lability (HP:0000712)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Dementia (HP:0000726)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Psychosis (HP:0000709)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Atypical behavior (HP:0000708)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Childhood onset (HP:0011463)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
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: ATRX
Phenotype: Short nose (HP:0003196)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
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: ATRX
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
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: ATRX
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Epicanthus (HP:0000286)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Epicanthus (HP:0000286)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Malar flattening (HP:0000272)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Malar flattening (HP:0000272)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Kyphosis (HP:0002808)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Genu valgum (HP:0002857)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Death in infancy (HP:0001522)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME (OMIM:300448)
Gene: ATRX
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Growth delay (HP:0001510)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Fatigue (HP:0012378)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Flat face (HP:0012368)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
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: ATRX
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Weak cry (HP:0001612)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Lack of bowel sounds (HP:0030145)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
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: ATRX
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Abnormal pulmonary valve cusp morphology (HP:0031566)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Triangular nasal tip (HP:0000451)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Atypical pulmonary carcinoid tumor (HP:0030446)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Weight loss (HP:0001824)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
Phenotype: Telecanthus (HP:0000506)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Exotropia (HP:0000577)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Gastric NET; GNET; Gastric neuroendocrine tumor; Neuroendocrine tumor of stomach; NET of stomach (ORPHA:100075)
Gene: ATRX
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: ATRX
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)