| HPO |
HP:0200073 |
Respiratory insufficiency due to defective ciliary clearance |
— |
— |
HP:0002093, HP:0012261 |
| HPO |
HP:0200083 |
Severe limb shortening |
— |
— |
HP:0002983 |
| HPO |
HP:0200084 |
Giant cell hepatitis |
"Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver." [PMID:27746622] |
— |
HP:0012115 |
| HPO |
HP:0200085 |
Limb tremor |
— |
— |
HP:0030188 |
| HPO |
HP:0200094 |
Frontal open bite |
— |
— |
HP:0010807 |
| HPO |
HP:0200095 |
obsolete Anterior open bite |
— |
— |
— |
| HPO |
HP:0200096 |
Triangular-shaped open mouth |
"A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle." [HPO:probinson] |
— |
HP:0000194, HP:0000207 |
| HPO |
HP:0200097 |
Oral mucosal blisters |
"Blisters arising in the mouth." [HPO:probinson] |
— |
HP:0011830, HP:0033800 |
| HPO |
HP:0200098 |
Absent skin pigmentation |
"Lack of skin pigmentation (coloring)." [HPO:probinson] |
— |
HP:0001010 |
| HPO |
HP:0200099 |
obsolete Peripheral retinal pigmentation abnormalities |
— |
— |
— |
| HPO |
HP:0200101 |
Decreased/absent ankle reflexes |
— |
— |
HP:0002522 |
| HPO |
HP:0200102 |
Sparse or absent eyelashes |
— |
— |
HP:0000499 |
| HPO |
HP:0200104 |
Absent fifth fingernail |
"Absence of nail of little finger." [HPO:probinson] |
— |
HP:0001817 |
| HPO |
HP:0200105 |
Absent fifth toenail |
— |
— |
HP:0001802 |
| HPO |
HP:0200106 |
Absent/shortened dynein arms |
— |
— |
HP:0012255 |
| HPO |
HP:0200107 |
Shortened inner dynein arms |
— |
— |
HP:0200106 |
| HPO |
HP:0200108 |
Shortened outer dynein arms |
— |
— |
HP:0200106 |
| HPO |
HP:0200109 |
Absent/shortened outer dynein arms |
— |
— |
HP:0200106 |
| HPO |
HP:0200111 |
Absent stapes head |
— |
— |
HP:0008628 |
| HPO |
HP:0200113 |
Aphalangy of hands and feet |
— |
— |
HP:0005886, HP:0009776, HP:0010745 |
| HPO |
HP:0200114 |
Metabolic alkalosis |
"Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process." [PMID:29493916] |
— |
HP:0001948 |
| HPO |
HP:0200116 |
Distal ileal atresia |
— |
— |
HP:0011102 |
| HPO |
HP:0200117 |
Recurrent upper and lower respiratory tract infections |
"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections." [] |
— |
HP:0002783, HP:0002788 |
| HPO |
HP:0200118 |
Malabsorption of Vitamin B12 |
— |
— |
HP:0004341 |
| HPO |
HP:0200119 |
Acute hepatitis |
"Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders." [] |
— |
HP:0012115 |