PedAM
Pediatric Disease Annotations & Medicines
| 49,xxxxy syndrome | ||||
| Disease ID | 1376 |
|---|---|
| Disease | 49,xxxxy syndrome |
| Synonym | xxxxy syndrome xxxxy syndrome (disorder) |
| Orphanet | |
| UMLS | C0265499 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1376 |
|---|---|
| Disease | 49,xxxxy syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:64) HP:0000027 | Azoospermia HP:0000389 | Chronic otitis media HP:0100962 | Shyness HP:0000470 | Short neck HP:0002019 | Constipation HP:0000135 | Hypogonadism HP:0000717 | Autism HP:0001263 | Global developmental delay HP:0000286 | Epicanthus HP:0000789 | Infertility HP:0000670 | Carious teeth HP:0001763 | Pes planus HP:0005692 | Joint hyperflexibility HP:0005930 | Abnormality of epiphysis morphology HP:0000445 | Wide nose HP:0008734 | Decreased testicular size HP:0000771 | Gynecomastia HP:0000545 | Myopia HP:0004322 | Short stature HP:0008678 | Renal hypoplasia/aplasia HP:0010807 | Open bite HP:0004936 | Venous thrombosis HP:0000684 | Delayed eruption of teeth HP:0000581 | Blepharophimosis HP:0001762 | Talipes equinovarus HP:0000486 | Strabismus HP:0001250 | Seizures HP:0002827 | Hip dislocation HP:0002673 | Coxa valga HP:0004209 | Clinodactyly of the 5th finger HP:0002463 | Language impairment HP:0003042 | Elbow dislocation HP:0000744 | Low frustration tolerance HP:0000682 | Abnormality of dental enamel HP:0001360 | Holoprosencephaly HP:0000110 | Renal dysplasia HP:0001252 | Muscular hypotonia HP:0000737 | Irritability HP:0002079 | Hypoplasia of the corpus callosum HP:0002204 | Pulmonary embolism HP:0000316 | Hypertelorism HP:0002564 | Malformation of the heart and great vessels HP:0005978 | Type II diabetes mellitus HP:0005280 | Depressed nasal bridge HP:0000046 | Scrotal hypoplasia HP:0000028 | Cryptorchidism HP:0000679 | Taurodontia HP:0008736 | Hypoplasia of penis HP:0100025 | Overfriendliness HP:0002099 | Asthma HP:0002205 | Recurrent respiratory infections HP:0002139 | Arrhinencephaly HP:0007018 | Attention deficit hyperactivity disorder HP:0002650 | Scoliosis HP:0002974 | Radioulnar synostosis HP:0000303 | Mandibular prognathia HP:0000457 | Depressed nasal ridge HP:0200021 | Down-sloping shoulders HP:0001249 | Intellectual disability HP:0000582 | Upslanted palpebral fissure HP:0000175 | Cleft palate HP:0002020 | Gastroesophageal reflux HP:0000248 | Brachycephaly HP:0001337 | Tremor |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1376 |
|---|---|
| Disease | 49,xxxxy syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000682 | Abnormality of dental enamel | MP:0002649 | abnormal enamel rod pattern;HP:0004209 | Clinodactyly of the 5th finger |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000682 | Abnormality of dental enamel | MP:0003257 | abnormal abdominal wall morphology;HP:0004209 | Clinodactyly of the 5th finger |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |