infections Respiratory tract infection Smooth philtrum Neutropenia Hip dysplasia Recurrent bacterial infections Albinism Pulmonary fibrosis Ocular albinism Fair hair Periodontitis Upslanted palpebral fissure Immunodeficiency Dysphasia Motor delay Self-injurious [mendelian.co]

infection syndrome STAT3 Hyper-IgE recurrent infection syndrome, autosomal recessive DOCK8 Hypertrophic osteoarthropathy type 1 HPGD Hypertrophic osteoarthropathy type 2 SLCO2A1 Hypochondroplasia FGFR3 Hypophosphatemic rickets with hypercalciuria SLC34A3 [centogene.com]

infections, and monocytosis Bruck syndrome 1 Pulmonary atresia with ventricular septal defect Follicle-stimulating hormone deficiency, isolated Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type [checkrare.com]

Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen. [ncbi.nlm.nih.gov]

[…] ichthyosis-sclerosing cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome Related symptoms: Autosomal recessive inheritance Hepatomegaly Splenomegaly [mendelian.co]

Allergic rhinitis MedGen UID: 382012 • Concept ID: C2607914 • Disease or Syndrome An inflammation of the NASAL MUCOSA triggered by ALLERGENS. [ncbi.nlm.nih.gov]

Conjugated hyperbilirubinemia Anemia of inadequate production Allergic rhinitis Calvarial hyperostosis Erythroid hyperplasia Pain Coma Vomiting Acidosis Abdominal pain Hypoglycemia Lactic acidosis Lethargy Orthokeratosis Concave nail Metabolic acidosis [mendelian.co]

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis パスウェイ hsa00190 酸化的リン酸化 hsa01100 代謝パスウェイ 病因遺伝子 COX4I2 [HSA: 84701 ] [KO: K02263 ] コメント Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea [genome.jp]

Steatorrhea MedGen UID: 20948 • Concept ID: C0038238 • Finding A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS. [ncbi.nlm.nih.gov]

Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes. [pubfacts.com]

Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

[…] to thrive SOURCES: UMLS GARD MESH DOID OMIM MONDO More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Low match HERMANSKY-PUDLAK SYNDROME 2; HPS2 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet [mendelian.co]

[…] to thrive, and anemia soon after birth. [genecards.org]

[…] to thrive, poor coordination, sensory (vision, hearing) problems, reduced mental functions, hypotonia, disease of the organ, dementia, respiratory problems, hypoglycemia, apnea, lactic acidosis, seizures, swallowing difficulties, developmental delays [brevets-patents.ic.gc.ca]

[…] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

This term has been used to describe the presence of more than expected dental caries. Skin rash MedGen UID: 8732 • Concept ID: C0015230 • Finding A red eruption of the skin. [ncbi.nlm.nih.gov]

Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. [mendelian.co]

Clinical jaundice usually is a sign of LIVER dysfunction. [ncbi.nlm.nih.gov]

Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

Congestive heart failure Myalgia Behavioral abnormality Retinal atrophy Dystonia Steatorrhea Scarring alopecia of scalp Hypotrichosis of the scalp Sclerosing cholangitis Absent hair Acute hepatitis Infantile onset Fatigue Delayed skeletal maturation Osteopenia [mendelian.co]

[…] dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG Ablepharon macrostomia syndrome Ulna hypoplasia with mental retardation Chromosome 19q13.11 deletion syndrome Spinocerebellar ataxia autosomal recessive 8 Osteopenia [checkrare.com]

Skin rash MedGen UID: 8732 • Concept ID: C0015230 • Finding A red eruption of the skin. Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver. [ncbi.nlm.nih.gov]

Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. [mendelian.co]

Scleroderma 29 members Scleromyxedema 24 members Scleromyxedema is a condition of mucinous deposition in the skin associated with monoclonal gammopathy characterized by a flesh-colored, papular skin eruption. The average age onset is 55 years and... [rareshare.org]

Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences. [ncbi.nlm.nih.gov]

Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children. [books.google.com]

Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen. [ncbi.nlm.nih.gov]

Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver. [ncbi.nlm.nih.gov]