| HPO |
HP:0012348 |
Decreased galactosylation of N-linked protein glycosylation |
"A reduction in the amount of galactose residues of N-glycans." [HPO:probinson] |
The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. |
HP:0012347 |
| HPO |
HP:0012349 |
Abnormal sialylation of N-linked protein glycosylation |
"An anomaly of the addition of sialic acids to N-linked glycans." [HPO:probinson] |
The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). |
HP:0012347 |
| HPO |
HP:0012350 |
Decreased sialylation of N-linked protein glycosylation |
"Decreased addition of sialic acids to N-linked glycans." [HPO:probinson] |
— |
HP:0012349 |
| HPO |
HP:0012351 |
Increased sialylation of N-linked protein glycosylation |
"Increased addition of sialic acids to N-linked glycans." [HPO:probinson] |
— |
HP:0012349 |
| HPO |
HP:0012352 |
Abnormal fucosylation of protein N-linked glycosylation |
"An anomaly of the addition of fucose sugar units to N-linked glycans." [HPO:probinson] |
— |
HP:0012347 |
| HPO |
HP:0012353 |
Decreased fucosylation of N-linked protein glycosylation |
"Decreased addition of fucose sugar units to N-linked glycans." [HPO:probinson] |
— |
HP:0012352 |
| HPO |
HP:0012354 |
Increased fucosylation of N-linked protein glycosylation |
"Increased addition of fucose sugar units to N-linked glycans." [HPO:probinson] |
— |
HP:0012352 |
| HPO |
HP:0012355 |
Abnormal mannosylation of N-linked protein glycosylation |
"An anomaly of the addition of mannose to N-linked glycans." [HPO:probinson] |
— |
HP:0012347 |
| HPO |
HP:0012356 |
Decreased mannosylation of N-linked protein glycosylation |
"Reduced addition of mannose to N-linked glycans." [HPO:probinson] |
— |
HP:0012355 |
| HPO |
HP:0012357 |
Increased mannosylation of N-linked protein glycosylation |
"Increased addition of mannose to N-linked glycans." [HPO:probinson] |
— |
HP:0012355 |
| HPO |
HP:0012358 |
Abnormal protein O-linked glycosylation |
"An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson] |
— |
HP:0012346 |
| HPO |
HP:0012359 |
Abnormal fucosylation of O-linked protein glycosylation |
"An anomaly of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] |
— |
HP:0012358 |
| HPO |
HP:0012360 |
Decreased fucosylation of O-linked protein glycosylation |
"A reduction of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] |
— |
HP:0012359 |
| HPO |
HP:0012361 |
Increased fucosylation of O-linked protein glycosylation |
"Increased addition of fucose sugar units to O-linked glycans." [HPO:probinson] |
— |
HP:0012359 |
| HPO |
HP:0012362 |
Abnormal sialylation of O-linked protein glycosylation |
"An anomaly of the addition of sialic acids to O-linked glycans." [HPO:probinson] |
— |
HP:0012358 |
| HPO |
HP:0012363 |
Decreased sialylation of O-linked protein glycosylation |
"An reduced addition of sialic acids to O-linked glycans." [HPO:probinson] |
— |
HP:0012362 |
| HPO |
HP:0012364 |
Decreased urinary potassium |
"A decreased concentration of potassium(1+) in the urine." [HPO:probinson] |
— |
HP:0012598 |
| HPO |
HP:0012365 |
Hypophosphaturia |
"An abnormally decreased phosphate concentration in the urine." [HPO:probinson] |
— |
HP:0012599 |
| HPO |
HP:0012366 |
Basilar invagination |
"Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [HPO:probinson, PMID:10084535] |
— |
HP:0000932 |
| HPO |
HP:0012367 |
Extra fontanelles |
"Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [HPO:probinson] |
Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. |
HP:0011328 |
| HPO |
HP:0012368 |
Flat face |
"Absence of concavity or convexity of the face when viewed in profile." [PMID:19125436] |
A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. |
HP:0001999 |
| HPO |
HP:0012369 |
Abnormality of malar bones |
"An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436] |
The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. |
HP:0000309, HP:0010668 |
| HPO |
HP:0012370 |
Prominence of the zygomatic bone |
"Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [ORCID:0000-0001-5889-4463, PMID:19125436] |
— |
HP:0010668 |
| HPO |
HP:0012371 |
Hyperplasia of midface |
"Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [HPO:probinson, PMID:19125436] |
This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. |
HP:0000309 |
| HPO |
HP:0012372 |
Abnormal eye morphology |
"A structural anomaly of the globe of the eye, or bulbus oculi." [HPO:probinson] |
previously: Abnormal globe morphology |
HP:0000478 |