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Acquired Pulmonary Alveolar Proteinosis
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Acropectorovertebral Dysplasia
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis +
Antibody Deficiency due to Defect in CD19
antiphospholipid syndrome +
asphyxiating thoracic dystrophy +
autoimmune disease of exocrine system
autoimmune disease of gastrointestinal tract +
autoimmune disease of skin and connective tissue +
autoimmune disease of the nervous system +
autoimmune disease of urogenital tract +
autoimmune hypersensitivity disease +
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
Autoimmune Limbic Encephalitis
autoimmune lymphoproliferative syndrome +
Autoimmune Progesterone Dermatitis
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
C9 Deficiency with Dermatomyositis
Camurati-Engelmann disease +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cd4+ Lymphocyte Deficiency
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
Chondrodysplasia with Joint Dislocations, GPAPP Type
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
Chondrodysplasia, Megarbane-Dagher-Melki Type
chondrodysplasia-pseudohermaphroditism syndrome
cleidocranial dysplasia +
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Combined Inflammatory and Immunologic Defect
combined T cell and B cell immunodeficiency +
common variable immunodeficiency +
complement component 9 deficiency
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Micromelic Dysplasia with Dislocation of Radius +
Czech Dysplasia, Metatarsal Type
Davenport Donlan Syndrome
Deltaretrovirus Infections +
Diabetes Mellitus, Congenital Autoimmune
Dyschondrosteosis and Nephritis
Ellis-Van Creveld syndrome +
Endotoxin Hyporesponsiveness
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY
Experimental Autoimmune Myocarditis
Experimental Autoimmune Uveitis +
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontometaphyseal Dysplasia +
Frontootopalatodigital Osteodysplasia
Ghosal Hematodiaphyseal Dysplasia
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Hepatic Venoocclusive Disease with Immunodeficiency
human immunodeficiency virus infectious disease +
Hyperostosis Frontalis Interna +
hypertrichotic osteochondrodysplasia Cantu type
Hypoglobulinemia and Absent B Cells
hypoparathyroidism-retardation-dysmorphism syndrome
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
Immunodeficiency 38, with Basal Ganglia Calcification
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity
Immunodeficiency due to Defect in CD3-Epsilon
Immunodeficiency due to Defect in CD3-Gamma
Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency due to Ficolin 3 Deficiency
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
Immunodeficiency without Anhidrotic Ectodermal Dysplasia
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
Inosine Phosphorylase Deficiency, Immune Defect Due To
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Interleukin 2 Receptor, Alpha, Deficiency of
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2
Jequier Kozlowski Skeletal Dysplasia
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Latent Autoimmune Diabetes in Adults
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Leukoencephalopathy with Metaphyseal Chondrodysplasia
Linear IgA Bullous Dermatosis
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME
Lymphoblastic Transformation, Intrinsic Defect in
Lymphoid System Deterioration, Progressive
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
lymphoproliferative syndrome +
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
membranous glomerulonephritis
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia without Hypotrichosis
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
Metaphyseal Dysplasia, Braun-Tinschert Type
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly-Micromelia Syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Multisystem Autoimmune Disease, Infantile-Onset +
Multisystem Autoimmune Disease, with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect
NEMO Mutation with Immunodeficiency
Neutrophil Immunodeficiency Syndrome
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
Osteodysplasia, Familial, Anderson Type
osteogenesis imperfecta +
Oto-Palato-Digital Syndrome Type 1
Oto-Palato-Digital Syndrome, Type 2
Otopalatodigital Spectrum Disorder
otospondylomegaepiphyseal dysplasia
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
phagocyte bactericidal dysfunction +
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
progressive pseudorheumatoid arthropathy of childhood
Properdin Deficiency, X-Linked
rheumatoid arthritis interstitial lung disease
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Roifman-Chitayat Syndrome
Schaefer Stein Oshman Syndrome
Schimke immuno-osseous dysplasia
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy
Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Spondyloepiphyseal Dysplasia, Maroteaux Type
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondyloepiphyseal Dysplasia, Nishimura Type
Spondyloepiphyseal Dysplasia, Stanescu Type
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia, Algerian Type
Spondylometaphyseal Dysplasia, Axial
Spondylometaphyseal Dysplasia, East-African Type
Spondylometaphyseal Dysplasia, Kozlowski Type
Spondylometaphyseal Dysplasia, Sedaghatian Type
Spondylometaphyseal Dysplasia, Type A4
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
Spondyloperipheral Dysplasia
Spondylospinal Thoracic Dysostosis
T Cell Immunodeficiency Primary
T-Cell Receptor-Alpha/Beta Deficiency
Teebi Naguib Al Awadi syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Thumb Agenesis, Short Stature, and Immunodeficiency
Tn polyagglutination syndrome
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
type 1 diabetes mellitus +
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
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