Gene Summary

Name:
SIK family kinase 3
Synonyms:
9030204A07Rik,  5730525O22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased early germinal center B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased CD4-negative NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal ulna morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.82×10-17
decreased CD5-positive gamma-delta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating fructosamine level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.93×10-06
decreased total body fat amount Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.65×10-06
decreased regulatory T cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
decreased CD4-positive NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
kyphosis Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.71×10-10
increased lean body mass Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.26×10-06
decreased KLRG1-positive T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased blood urea nitrogen level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.35×10-07
decreased alpha-beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased KLRG1-positive NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased KLRG1+ CD8 alpha beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating potassium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.07×10-05
increased granulocyte number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal fibula morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.18×10-19
increased KLRG1-positive CD4-negative NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased germinal center B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal tibia morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.18×10-19
increased circulating bilirubin level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 7.11×10-19
increased KLRG1-positive T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal thoracic cage shape Sik3tm1a(EUCOMM)Hmgu HOM Early adult 6.18×10-15
decreased Ly6C-positive mature NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased T cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating amylase level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.50×10-06
decreased NK cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
improved glucose tolerance Sik3tm1a(EUCOMM)Hmgu HOM Early adult 6.58×10-15
decreased effector memory T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating calcium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.65×10-05
increased circulating sodium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 7.16×10-08
increased effector memory T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal cranium morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.11×10-12
abnormal vertebrae morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.21×10-10
abnormal zygomatic bone morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.89×10-05
increased memory-marker NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased hematocrit Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.87×10-05
abnormal coat/hair pigmentation Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.05×10-11
abnormal tail morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.52×10-16
increased eosinophil cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased Ly6C-positive NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased red blood cell distribution width Sik3tm1a(EUCOMM)Hmgu HOM Early adult 6.14×10-11
abnormal humerus morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.51×10-18
decreased circulating HDL cholesterol level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.34×10-12
abnormal rib morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.55×10-07
increased mean platelet volume Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.40×10-08
increased CD8-positive, alpha-beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal cornea morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.41×10-05
abnormal retina morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 4.58×10-05
abnormal femur morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.82×10-17
abnormal spine curvature Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.50×10-11
increased follicular B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal bone structure Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 3.63×10-06
obsolete decreased CD4-positive, alpha beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating glucose level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.23×10-16
decreased gamma-delta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating cholesterol level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.90×10-10
decreased erythrocyte cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.94×10-11
decreased memory-marker CD4-positive NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal pelvic girdle bone morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.51×10-13
thrombocytopenia Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.16×10-05
decreased memory-marker CD4-negative NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased CD4-positive, alpha beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased mean corpuscular hemoglobin Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.01×10-17
increased circulating alkaline phosphatase level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased plasmacytoid dendritic cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal joint morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 5.46×10-16
increased memory-marker gamma-delta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal radius morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.05×10-16
female infertility Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 86 images

View all 35 images

View all 15 images

View all 6 images

Human diseases caused by Sik3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sik3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, 2-3 toe syndactyly, Pectus excavatum, Rhizomelia, Metaphyseal irregularity, ... OMIM:618162

The table below shows human diseases predicted to be associated to Sik3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... OMIM:613330
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing of the legs, ... OMIM:600081
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Pec... OMIM:271530
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like ver... OMIM:151210
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... OMIM:618961
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Stillbirth, Short ribs, Advanced ossification of carpal... OMIM:215045
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... OMIM:602557
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... OMIM:269250
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits ORPHA:169095
Dysosteosclerosis
Increased intervertebral space, Short ribs, Absent frontal sinuses, Progressive bowing of long bo... OMIM:224300
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing of the legs, ... OMIM:241530
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Unossified sacrum, Absent vertebral body minera... ORPHA:93296
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... OMIM:612526
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Albers-Schönberg Osteopetrosis
Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, An... ORPHA:53
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Metaphyseal wi... OMIM:187760
Lethal Kniest-Like Dysplasia
Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebrae, Talipes equinovarus, Anteri... ORPHA:2347
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... OMIM:616050
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:264700
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Absent vertebral body mine... OMIM:200610
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia ORPHA:2582
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Fai... OMIM:169400
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... OMIM:228520
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:277440
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Narrow chest, Micromelia, ... OMIM:600972
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholest... OMIM:604367
Somatostatinoma
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97283
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Pectus excavatum, Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Epiphyseal dysplas... OMIM:617425
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Abnormality of ... ORPHA:1842
Vipoma
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... ORPHA:97282
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Infantile Sialic Acid Storage Disease
Failure to thrive, Vacuolated lymphocytes, Metaphyseal irregularity, Hypopigmentation of the skin... OMIM:269920
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Narcolepsy 7
Narcolepsy OMIM:614250
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... OMIM:609052
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... ORPHA:528
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... OMIM:235555
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Three M Syndrome 1
Pectus excavatum, Small for gestational age, Short thorax, Short ribs, Short 5th finger, Spina bi... OMIM:273750
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Metaphyseal widening, Platyspondyly, Short ribs, Hypoplastic i... OMIM:614524
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... ORPHA:89936
Ppoma
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... ORPHA:97278
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Abnormal bone structure, Super... OMIM:215140
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask deformity ... OMIM:610539
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... OMIM:146000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Short thorax, Limited ... ORPHA:175
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Broad femoral head, Hip contracture, Prominent ... ORPHA:353298
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... OMIM:601847
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... ORPHA:71529
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Deformed rib... ORPHA:289157
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... ORPHA:508533
Malaria
Anemia, Hyperbilirubinemia, Retinopathy, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Hypophosphatasia, Infantile
Decreased calvarial ossification, Short lower limbs, Death in infancy, Bowing of the legs, Failur... OMIM:241500
Dermatosparaxis Ehlers-Danlos Syndrome
Micrognathia, Coxa valga, Abnormal joint morphology, Rickets, Avascular necrosis of the capital f... ORPHA:1901
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... ORPHA:97261
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... OMIM:300554
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Craniosynostosis, Joint contracture of the hand, Clubbing, Keratitis, Hip dislocati... OMIM:618523
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Radial club hand, Leukopenia, Talipes equinovarus, Rock... OMIM:617053
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Optic atrophy, Sandwich appearance of vertebral bodies, Failure to thrive, Osteope... OMIM:259700
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Roifman Syndrome
Single transverse palmar crease, Hip contracture, Irregular vertebral endplates, Prominent eyelas... OMIM:616651
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Short ribs, Broad hallux, Bul... OMIM:304120
Cinca Syndrome
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Papilledema, Hepatosplenomegaly, Eosinophil... OMIM:607115
Hermansky-Pudlak Syndrome 2
Carious teeth, Neutropenia, Ocular albinism, Aberrant melanosome maturation, Enlarged platelet de... OMIM:608233
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Small for gestational age, Dysplastic sacrum, Short ribs, Wormian bones, Ili... OMIM:613320
Diastrophic Dysplasia
Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Micrognathia, Optic disc pallor, Osteopetrosis, Anemia, Decreased osteoclast count... OMIM:259720
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Hypertrichosis, Cone-shaped epiphysis, Optic nerve hypoplasia, Clinodactyly of... ORPHA:221139
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... ORPHA:53035
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pseudoarthrosis, Pectus excavatum, Missing ribs, Short ribs, Scoliosis OMIM:618155
Edinburgh Malformation Syndrome
Jaundice, Death in infancy, Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increas... OMIM:614921
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Short thorax, Microretrognathia, Short long bone, Small epiphyses, Micrognathia,... OMIM:618363
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, Reduced natural killer cell count, Decreased propor... OMIM:619510
Immunodeficiency 8
Lymphopenia OMIM:615401
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Osteopenia, Narrow chest, Femoral bowing OMIM:618188
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Glucagonoma
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97280
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Alopecia, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:169154
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... ORPHA:398063
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Hyperpigmentation of the skin, Splenomegaly OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... OMIM:619484
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular d... OMIM:616897
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Failure to thrive, Kyp... OMIM:614727
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Alopecia, Anemia... OMIM:603554
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Short iliac bones, Enlarged thorax, Aplastic pubic bo... ORPHA:3003
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly OMIM:608971
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Anterior rib cupping, Failure to thrive, Reduced red cell adenosine deaminase ... OMIM:102700
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Micrognathia, Thoracic hypop... OMIM:617866
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Pyle Disease
Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Platyspondyly, Abnormal... OMIM:265900
Ollier Disease
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... ORPHA:296
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... OMIM:250220
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:605479
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy... ORPHA:249
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Ascites, Failure to thrive, Cir... OMIM:617156
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... ORPHA:66637
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Immunodeficiency 49
Micrognathia, Hirsutism, Wormian bones, Natal tooth, Lymphopenia, Eosinophilia, Umbilical hernia OMIM:617237
Immunodeficiency 40
Lymphopenia OMIM:616433
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... ORPHA:2021
Cholestasis, Intrahepatic, Of Pregnancy 3
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... OMIM:614972
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Micromelia, Metaphyseal c... OMIM:250460
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy, Diabetes mellitus, Minimal s... ORPHA:280365
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Conjunctivitis ORPHA:26137
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Prieto X-Linked Mental Retardation Syndrome
Talipes equinovarus, Patellar subluxation, Osteoporosis, Radial deviation of finger, 11 pairs of ... OMIM:309610
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Long clavicles, Carious teeth, Thin ribs, Delayed closure of the anterior fontane... OMIM:244460
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Hypophosphatemic Bone Disease
Osteomalacia, Bowing of the legs, Rickets OMIM:146350
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive... ORPHA:47
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shorten... OMIM:300863
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Omenn Syndrome
Leukocytosis, Failure to thrive, Abnormal lymphocyte morphology, Anemia, Abnormality of the metap... ORPHA:39041
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Reduced natural killer cell count, Micrognathia, T lymphocytopenia OMIM:242860
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... OMIM:601561
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Hirsutism... OMIM:151660
Alg12-Cdg
Talipes equinovarus, Proximal placement of thumb, Abnormal adipose tissue morphology, Camptodacty... ORPHA:79324
Immunodeficiency 88
Eosinophilia OMIM:619630
Generalized Eruptive Histiocytosis
Leukemia, Spotty hyperpigmentation, Hypereosinophilia, Histiocytosis ORPHA:157991
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Alpha-Heavy Chain Disease
Alopecia, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, J... OMIM:224400
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Fine hair, Lateral displacement of the femoral head, Opacification of... OMIM:242900
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Po... ORPHA:2348
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... ORPHA:3319
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Insulin-Like Growth Factor I Deficiency
Micrognathia, Osteopenia, Radial deviation of finger, Decreased body weight, Clinodactyly OMIM:608747
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:155100
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Developmental cataract, Leukocyte inclusion bodies, Gia... OMIM:153640
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Reduced bone mineral densit... ORPHA:2370
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... ORPHA:93308
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... OMIM:300009
Noonan Syndrome 12
Spinal canal stenosis, Pectus excavatum, Proximal placement of thumb, 11 pairs of ribs, Lymphopen... OMIM:618624
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... ORPHA:276
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture... OMIM:602484
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Gi... ORPHA:182050
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia OMIM:618806
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Hypother... OMIM:251880
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Small for gestational age, Stillbirth, Abnormal... ORPHA:294975
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... ORPHA:90362
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Joint dislocation, Abnormal bone st... ORPHA:93160
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis OMIM:184800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Takenouchi-Kosaki Syndrome
Optic atrophy, Highly arched eyebrow, Increased mean platelet volume, Dental malocclusion, Tapere... OMIM:616737
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice OMIM:237500
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
Momo Syndrome
Femoral bowing, Large hands, Congenital pseudoarthrosis of the clavicle, Large for gestational ag... ORPHA:2563
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic f... ORPHA:370
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Diabetes mell... OMIM:613845
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Cubitus valgus, Narrow p... ORPHA:79106
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short ribs, Narrow chest, Short long bone, Scoliosis, Brachydactyly OMIM:613819
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/... ORPHA:3111
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... ORPHA:93316
Cleidocranial Dysplasia
Abnormal facility in opposing the shoulders, Aplastic clavicle, Short ribs, Absent frontal sinuse... OMIM:119600
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concent... OMIM:253600
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof, Decreased body weight OMIM:613676
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Elevated circulating creatine kinase conc... OMIM:613327
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Osteopenia, Persistence of primary teeth, Eosinophilia, Scoliosis OMIM:147060
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steator... OMIM:278000
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Synostosis of joints, Brachydactyly, Delayed cranial su... ORPHA:198
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Marshall-Smith Syndrome
Pectus excavatum, Large sternal ossification centers, Failure to thrive, Short sternum, Bullet-sh... OMIM:602535
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Platyspondyly... OMIM:245190
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Broad long bones, Pterygium, Talipes equinovarus, Bowing of the legs, Limb undergro... ORPHA:1865
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Generalized hypo... ORPHA:84064
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Odontochondrodysplasia 1
Genu varum, Death in infancy, Genu recurvatum, Short phalanx of finger, Short long bone, Flat ace... OMIM:184260
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I... OMIM:619271
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... ORPHA:93314
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis... OMIM:615631
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... ORPHA:2070
Pycnodysostosis
Spondylolysis, Micrognathia, Osteolytic defects of the distal phalanges of the hand, Absent front... OMIM:265800
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Alg8-Cdg
Hyponatremia, Optic atrophy, Talipes equinovarus, Small for gestational age, Failure to thrive, A... ORPHA:79325
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Incontinentia Pigmenti
Atrophic, patchy alopecia, Hypoplastic nipples, Delayed eruption of teeth, Eosinophilia, Sparse h... OMIM:308300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Decreased body weight, Short phalanx of finger... OMIM:618724
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Micrognathia, Hip contracture, Bowing of the long bones, Short ribs, Knee fl... OMIM:156400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... ORPHA:264580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Neutropenia, S... OMIM:250250
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Short Stature, Brussels Type
Narrow chest, Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... ORPHA:911
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... OMIM:226900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Genu valgum, Bell-shaped thorax, Postaxia... OMIM:615630
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Aspergillosis
Abnormality of the vertebral column, Neutropenia, Abnormality of long bone morphology, Keratitis,... ORPHA:1163
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... ORPHA:2088
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... ORPHA:890
Progeria-Short Stature-Pigmented Nevi Syndrome
Micrognathia, Lack of facial subcutaneous fat, Small for gestational age, Hyperpigmented nevi, In... ORPHA:2959
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of epiphysis morphology... ORPHA:970
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Failure to thrive, Reduced bone mineral density, Splenomegaly, Hypoc... ORPHA:172
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:171851
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Decreased circulating T4 level, Decreased thyroid-stimu... ORPHA:95715
Idiopathic Congenital Hypothyroidism
Hypothermia, Neonatal hyperbilirubinemia, Decreased circulating T4 level, Elevated circulating th... ORPHA:95717
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... ORPHA:436
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Immunodeficiency 7
Failure to thrive, Hypereosinophilia OMIM:615387
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Hepatomegaly, Ascites, Elevated alkaline phosphatase of hepatic origin, ... ORPHA:100085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Failure to thrive, Renal t... OMIM:613404
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Shallow acetabular fossae... ORPHA:1830
Incontinentia Pigmenti
Abnormal hair morphology, Dystrophic toenail, Abnormal dental enamel morphology, Delayed eruption... ORPHA:464
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Abnormality of urine hom... ORPHA:1414
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Type II diabetes mellitus, Elevated circulating creatine kinase concentrati... ORPHA:79095
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphysis, Craniosynostosis, Short phalanx of finger, Short ribs, Hypoplasia of the c... OMIM:266920
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Joint contracture of the hand, Shor... OMIM:224690
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Flat capital femoral epiphys... OMIM:614135
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ri... OMIM:610319
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Failure ... OMIM:208085
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Upper limb undergrowth, Abnormal joint morphology, Pectus carina... ORPHA:93351
Schneckenbecken Dysplasia
Diaphyseal thickening, Lateral clavicle hook, Hypoplastic scapulae, Abnormal form of the vertebra... ORPHA:3144
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hyperpigmentation of the skin, Nail dystrophy, Anemia, Alopecia, Clubbing,... OMIM:175500
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Clubbing of fingers, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal thorax morphology, Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Death in infancy, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated... OMIM:618528
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... ORPHA:369
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthri... OMIM:601457
Cooper-Jabs Syndrome
Missing ribs, Proximal placement of thumb, Reduced bone mineral density, Abnormal rib morphology,... ORPHA:1488
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Alopecia, Micrognathia OMIM:618282
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Dysspondyloenchondromatosis
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Abnormality of ulnar metaphysis, Pla... ORPHA:85198
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Lathosterolosis
Toe syndactyly, Micrognathia, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis... OMIM:607330
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomala... OMIM:146300
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... OMIM:113000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Elevated circulating al... ORPHA:247598
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Scarf Syndrome
Pectus carinatum, Craniosynostosis, Abnormal form of the vertebral bodies, Short sternum, Short n... ORPHA:3134
Wt Limb-Blood Syndrome
Micrognathia, Hypoplastic anemia, Ulnar deviation of thumb, Leukemia, Clinodactyly of the 5th fin... OMIM:194350
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Fanconi Anemia, Complementation Group G
Neutropenia, Leukemia, Anemia, Abnormal thumb morphology, Multiple cafe-au-lait spots, Thrombocyt... OMIM:614082
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Alopecia, Arthriti... OMIM:615559