C1837218 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
16 |
17 |
C3281201 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; syndrome; disease of mental health
|
|
3 |
61 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
35 |
49 |
C1865017 |
Thin upper lip vermilion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
18 |
25 |
C1844813 |
Widely spaced teeth
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
10 |
10 |
C0024433 |
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
10 |
11 |
C0240340 |
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
1 |
1 |
C0221356 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
19 |
18 |
C1850049 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
37 |
39 |
C1840069 |
Sandal gap
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
6 |
6 |
C1384666 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the ear
|
88 |
257 |
C1857486 |
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
17 |
19 |
C0857379 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
9 |
9 |
C0020676 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system
|
25 |
28 |
C0027092 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
45 |
52 |
C0266324 |
Congenital dilatation of ureter
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the genitourinary system
|
1 |
1 |
C0020517 |
Hypersensitivity
|
group |
Immune System Diseases
|
Pathologic Function
|
disease of anatomical entity
|
Abnormality of the immune system
|
1 |
1 |
C4023116 |
Hypoplastic fifth toenail
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the integument
|
4 |
4 |
C0277960 |
Dry hair
|
phenotype |
|
Finding
|
|
Abnormality of the integument
|
2 |
2 |
C1842366 |
Low anterior hairline
|
phenotype |
|
Finding
|
|
Abnormality of the integument; Abnormality of head or neck
|
13 |
17 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
237 |
417 |
C0454644 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
|
Abnormality of the nervous system
|
124 |
192 |
C1837397 |
Severe global developmental delay
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
33 |
50 |