Db	Link	Name	Definition	Comment	Is a
HPO	HP:0000750	Delayed speech and language development	"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson]	Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.	HP:0002167, HP:0002463, HP:0012758
HPO	HP:0007427	Reticulated skin pigmentation	—	—	HP:0001000
HPO	HP:0002745	Oral leukoplakia	"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, PMID:17944749]	The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart.	HP:0025125
HPO	HP:0002216	Premature graying of hair	"Development of gray hair at a younger than normal age." [HPO:probinson]	—	HP:0007495, HP:0009887
HPO	HP:0009926	Epiphora	"Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123, PMID:28003974]	Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system.	HP:0000632
HPO	HP:0001596	Alopecia	"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077]	—	HP:0011362
HPO	HP:0001873	Thrombocytopenia	"A reduction in the number of circulating thrombocytes." [HPO:probinson]	Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).	HP:0011873
HPO	HP:0002213	Fine hair	"Hair that is fine or thin to the touch." [HPO:probinson]	—	HP:0010719
HPO	HP:0002514	Cerebral calcification	"The presence of calcium deposition within brain structures." [HPO:probinson]	This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull.	HP:0002060, HP:0010766
HPO	HP:0000939	Osteoporosis	"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453]	Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.	HP:0004349
HPO	HP:0002206	Pulmonary fibrosis	"Replacement of normal lung tissues by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson]	Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.	HP:0006530
HPO	HP:0002164	Nail dysplasia	"The presence of developmental dysplasia of the nail." [HPO:probinson]	—	HP:0001597
OMIM	OMIM:613990	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3	—	—	—
OMIM	OMIM:127550	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1	—	—	—
OMIM	OMIM:268130	REVESZ SYNDROME	—	—	—