| HPO |
HP:0000403 |
Recurrent otitis media |
"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] |
— |
HP:0000388, HP:0002719 |
| HPO |
HP:0001047 |
Atopic dermatitis |
"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [HPO:probinson, PMID:27904186] |
In infants, atopic dermatitis is known as infantile eczema. |
HP:0000964 |
| HPO |
HP:0002110 |
Bronchiectasis |
"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] |
— |
HP:0025426 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0000989 |
Pruritus |
"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson] |
— |
HP:0011122 |
| HPO |
HP:0000445 |
Wide nose |
"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] |
— |
HP:0005105 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000218 |
High palate |
"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| HPO |
HP:0001880 |
Eosinophilia |
"Increased count of eosinophils in the blood." [HPO:sdoelken] |
— |
HP:0001974, HP:0020064 |
| HPO |
HP:0002205 |
Recurrent respiratory infections |
"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] |
— |
HP:0002719, HP:0011947 |
| HPO |
HP:0002728 |
Chronic mucocutaneous candidiasis |
"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, PMID:20859203] |
The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. |
HP:0011370 |