C0266122 |
Cleft uvula
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
Abnormality of head or neck
|
2 |
C0432090 |
Cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
Abnormality of head or neck
|
2 |
C0432098 |
Cleft Soft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
Abnormality of head or neck
|
2 |
C0265268 |
Adams Oliver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
syndrome
|
|
6 |
C0812437 |
Oculo-dento-digital syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome
|
|
4 |
C1608393 |
Megacystis microcolon intestinal hypoperistalsis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
syndrome
|
|
4 |
C0039263 |
Takayasu Arteritis
|
disease |
Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
syndrome
|
|
3 |
C0265329 |
Organoid Nevus Phakomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
syndrome
|
|
3 |
C0272170 |
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
3 |
C0796004 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
syndrome
|
|
3 |
C0796147 |
Acrocallosal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
syndrome
|
|
3 |
C2931760 |
Acrocallosal syndrome, Schinzel type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
syndrome
|
|
3 |
C0085261 |
Proteus Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
syndrome
|
|
2 |
C0149910 |
Intermittent joint effusion
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C0175697 |
Van der Woude syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C0432198 |
Short rib-polydactyly syndrome, Beemer type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C0432253 |
Bruck syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1836602 |
Bruck syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1846009 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1848030 |
Hypotonia-Cystinuria Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1850168 |
Bruck syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1855722 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
syndrome
|
|
2 |
C1865143 |
BRANCHIOOTIC SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
syndrome
|
|
2 |
C2678439 |
CRANIOOSTEOARTHROPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
syndrome
|
|
2 |
C3551443 |
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
2 |