Human (105 sources):
Abnormal blistering of the skin,
Abnormal eyebrow morphology,
Abnormal eyelash morphology,
Abnormal fingernail morphology,
Abnormal leukocyte morphology,
Abnormal morphology of female internal genitalia,
Abnormal testis morphology,
Abnormality of coagulation,
Abnormality of neutrophils,
Abnormality of the dentition,
Abnormality of the pharynx,
Acute myeloid leukemia,
Anal mucosal leukoplakia,
Anemia,
Anorectal anomaly,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Ataxia,
Avascular necrosis,
Blepharitis,
Bone marrow hypocellularity,
Carcinoma,
Carious teeth,
Cataract,
Cellular immunodeficiency,
Cerebellar hypoplasia,
Cerebral calcification,
Cerebral cortical atrophy,
Cirrhosis,
Coarse metaphyseal trabecularization,
Conjunctivitis,
Cryptorchidism,
Decreased testicular size,
Dermal atrophy,
Diabetes mellitus,
Displacement of the urethral meatus,
Epiphora,
Esophageal stricture,
Excessive wrinkled skin,
Failure to thrive,
Generalized hyperpigmentation,
Generalized hypopigmentation of hair,
Global developmental delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
Hodgkin lymphoma,
Horseshoe kidney,
Hyperhidrosis,
Hypermelanotic macule,
Hyperpigmentation of the skin,
Hypodontia,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Hyporeflexia,
Hypospadias,
Immunodeficiency,
Intellectual disability,
Intrauterine growth retardation,
Leukopenia,
Lymphoma,
Macule,
Malabsorption,
Microcephaly,
Myelodysplasia,
Nail dystrophy,
Neoplasm,
Neoplasm of the pancreas,
Optic atrophy,
Oral leukoplakia,
Osteoporosis,
Palmoplantar keratoderma,
Pancytopenia,
Periodontitis,
Phimosis,
Premature graying of hair,
Premature loss of teeth,
Pterygium,
Pterygium of nails,
Pulmonary fibrosis,
Recurrent fractures,
Recurrent respiratory infections,
Restrictive ventilatory defect,
Reticulated skin pigmentation,
Ridged nail,
Scoliosis,
Short stature,
Skin ulcer,
Skin vesicle,
Sparse eyelashes,
Sparse hair,
Sparse scalp hair,
Spasticity,
Splenomegaly,
Split nail,
Squamous cell carcinoma,
Strabismus,
Taurodontia,
Telangiectasia of the skin,
Thrombocytopenia,
Tracheoesophageal fistula,
Urethral stenosis,
Ventriculomegaly,
White hair,
obsolete Hypotrichosis
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