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302950
CDPX1
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
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Neoplasms
Neoplasms by Histologic Type
Nevi and Melanomas
Nevus
Nevus, Pigmented
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Dysostoses
Orofaciodigital Syndromes
Osteochondrodysplasias
Chondrodysplasia Punctata
Spinal Diseases
Spinal Stenosis
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Orofaciodigital Syndromes
Respiratory Tract Diseases
Nose Diseases
Nose Deformities, Acquired
Otorhinolaryngologic Diseases
Nose Diseases
Nose Deformities, Acquired
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Spinal Cord Diseases
Spinal Cord Compression
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Sensation Disorders
Olfaction Disorders
Male Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
Turner Syndrome
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
Turner Syndrome
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Pregnancy Complications
Abortion, Spontaneous
Fetal Death
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
Turner Syndrome
Heart Diseases
Heart Defects, Congenital
Turner Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Orofaciodigital Syndromes
Cardiovascular Abnormalities
Heart Defects, Congenital
Turner Syndrome
Chromosome Disorders
Sex Chromosome Disorders
Orofaciodigital Syndromes
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Orofaciodigital Syndromes
Skin Abnormalities
Ichthyosis
Ichthyosis, X-Linked
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
Turner Syndrome
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Genetic Diseases, Inborn
Chromosome Disorders
Sex Chromosome Disorders
Orofaciodigital Syndromes
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Dwarfism
Genetic Diseases, X-Linked
Ichthyosis, X-Linked
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Ichthyosis, X-Linked
Skin Diseases, Genetic
Ichthyosis, X-Linked
Infant, Newborn, Diseases
Ichthyosis
Ichthyosis, X-Linked
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Lupus Erythematosus, Systemic
Skin Diseases
Keratosis
Ichthyosis
Ichthyosis, X-Linked
Pigmentation Disorders
Skin Abnormalities
Ichthyosis
Ichthyosis, X-Linked
Skin Diseases, Genetic
Ichthyosis, X-Linked
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Ichthyosis, X-Linked
Endocrine System Diseases
Dwarfism
Gonadal Disorders
Disorders of Sex Development
Gonadal Dysgenesis
Turner Syndrome
Sex Chromosome Disorders of Sex Development
Turner Syndrome
Hypogonadism
Immune System Diseases
Autoimmune Diseases
Lupus Erythematosus, Systemic
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Sex Chromosome Aberrations
Translocation, Genetic
Death
Fetal Death
Disease
Syndrome
Disease Attributes
Chronic Disease
Growth Disorders
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Sensation Disorders
Olfaction Disorders
Wounds and Injuries
Spinal Cord Injuries
Spinal Cord Compression
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