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
decreased KLRG1-positive NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased 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
abnormal fibula morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.18×10-19
increased memory-marker gamma-delta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased KLRG1-positive T-helper 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
increased mean platelet volume Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.40×10-08
abnormal spine curvature Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.50×10-11
abnormal pelvic girdle bone morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.51×10-13
increased mean corpuscular hemoglobin Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.01×10-17
decreased total body fat amount Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.60×10-06
abnormal coat/hair pigmentation Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.05×10-11
decreased circulating cholesterol level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.90×10-10
decreased germinal center B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating glucose level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.23×10-16
abnormal tail morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.52×10-16
increased memory-marker NK 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
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal cranium morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.11×10-12
increased circulating sodium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 7.16×10-08
increased Ly6C-positive NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal zygomatic bone morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.89×10-05
increased effector memory T-helper 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 effector memory T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased NK 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
decreased hematocrit Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.87×10-05
decreased T cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
improved glucose tolerance Sik3tm1a(EUCOMM)Hmgu HOM Early adult 6.04×10-15
abnormal vertebrae morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.21×10-10
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
abnormal cornea morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.41×10-05
abnormal rib morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.55×10-07
decreased Ly6C-positive mature NK cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased regulatory 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 circulating calcium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.65×10-05
decreased early germinal center B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
obsolete decreased CD4-positive, alpha beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased granulocyte number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal tibia morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.18×10-19
increased KLRG1-positive T-helper cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased follicular B cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
female infertility Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating bilirubin level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 7.11×10-19
decreased circulating potassium level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 1.07×10-05
increased KLRG1-positive CD4-negative NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating HDL cholesterol level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.34×10-12
abnormal femur morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 3.82×10-17
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 circulating fructosamine level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.93×10-06
decreased CD5-positive gamma-delta T 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
increased CD8-positive, alpha-beta T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased memory-marker 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
abnormal retina morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 4.58×10-05
abnormal humerus morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.51×10-18
abnormal joint morphology Sik3tm1a(EUCOMM)Hmgu HOM Early adult 5.46×10-16
increased plasmacytoid dendritic cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased memory-marker CD4-positive NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased NK T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased 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
thrombocytopenia Sik3tm1a(EUCOMM)Hmgu HOM Early adult 2.16×10-05
decreased erythrocyte cell number Sik3tm1a(EUCOMM)Hmgu HOM Early adult 9.94×10-11
increased circulating alkaline phosphatase level Sik3tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased eosinophil 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 CD4-positive, CD25-positive, alpha-beta regulatory T cell number Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal bone structure Sik3tm1a(EUCOMM)Hmgu HOM   Early adult 3.63×10-06

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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.

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

180 Images

Spleen Immunophenotyping

Images associated with FACS analysis

168 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Slit Lamp

8 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

14 Images

Ear epidermis immunophenotyping

Images

12 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
Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Clinodactyly of the ... 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, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Thoracomelic Dysplasia
Narrow chest, Abnormal pelvic girdle bone morphology, Elbow dislocation, Bell-shaped thorax, Genu... ORPHA:1803
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... OMIM:215045
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... ORPHA:93296
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bulging of the co... OMIM:600081
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Severe limb shortening, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Micromelia, Wide distal femor... OMIM:613320
Dysosteosclerosis
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A... OMIM:224300
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bone... ORPHA:2501
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, He... ORPHA:280356
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bulging of the co... OMIM:241530
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Slender build, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, S... OMIM:187760
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, ... ORPHA:2347
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi... OMIM:614524
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Albers-Schönberg Osteopetrosis
Optic atrophy, Short distal phalanx of finger, Carious teeth, Joint dislocation, Abnormal epiphys... ORPHA:53
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:264700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Failure to thrive, Upper limb undergrowth, Umbilical herni... OMIM:169400
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Short ... OMIM:600972
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep... OMIM:617425
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Infantile Sialic Acid Storage Disease
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Fair hair, Abnormal thorax morpholog... OMIM:269920
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:277440
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ... ORPHA:289157
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Three M Syndrome 1
Short 5th finger, Small for gestational age, Joint dislocation, Slender long bone, Clinodactyly o... OMIM:273750
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Arthropathy, Eosinophilia, Thoracolumbar scoliosis, Clu... OMIM:618523
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ... OMIM:227810
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Neutropenia, Diaphy... ORPHA:175
Roifman Syndrome
Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Prominent eyelashes, Hepatosplenomega... ORPHA:353298
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metap... OMIM:200600
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morphology, Joint stiffness,... ORPHA:1901
Ppoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97278
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero... ORPHA:89936
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:601847
Malaria
Hyperbilirubinemia, Retinopathy, Anemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker... OMIM:618393
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Fai... OMIM:241500
Roifman Syndrome
Biconvex vertebral bodies, Short toe, Prominent eyelashes, Irregular femoral epiphysis, Splenomeg... OMIM:616651
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Death in infancy, Frontal hirsutism, Jaundice OMIM:129850
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equinovarus, Short ... OMIM:611209
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ... OMIM:619752
Mirage Syndrome
Rocker bottom foot, Scoliosis, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Overlappi... OMIM:617053
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... ORPHA:71289
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... ORPHA:169154
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Papilledema, Arthrit... OMIM:607115
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Carious teeth, Failure to thrive, Flared metaphysis, Sandwich appearance of verteb... OMIM:259700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... OMIM:186500
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... OMIM:617974
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Mi... OMIM:616897
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala... ORPHA:221139
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... OMIM:618108
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Carious teeth, Enlarged platelet dense granules, Fai... OMIM:608233
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Cranial hyperostosis, Flared metaphysis, ... OMIM:259720
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Natal tooth, Umbilical hernia, Lymphopenia,... OMIM:617237
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Immunodeficiency 54
Reduced natural killer cell count, Hyperpigmentation of the skin, Splenomegaly, Failure to thrive OMIM:609981
Glucagonoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97280
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy... ORPHA:2114
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long... OMIM:224400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Micromelia, Thoracic hypoplasia, Radial bowing, Preaxial polydactyly, Vertebral we... OMIM:617866
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase ... OMIM:614887
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Kyphosis, Short femoral neck, Decreased body weight, Brachydactyly, Reduced bon... OMIM:618392
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Elevated circulating creatine kinase concentration, Kyph... OMIM:614727
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Narrow chest, Anisospondyly, Limitation of joint mobility, Micromelia, Broad lo... ORPHA:1865
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... ORPHA:1667
Ollier Disease
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... ORPHA:296
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad... ORPHA:249
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ... ORPHA:3003
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Seckel Syndrome 4
Severe failure to thrive, 11 pairs of ribs, Steep acetabular roof, Decreased body weight OMIM:613676
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Omenn Syndrome
Alopecia, Short toe, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... ORPHA:39041
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff... ORPHA:93308
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:614972
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Abnormal thorax morphology, Limited elbow extension, Gen... OMIM:265900
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ... OMIM:244460
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Decreased proportion of naive T... OMIM:619381
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Bell-shaped thorax, Micrognathia, Genu valgum,... ORPHA:56304
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Failure to thrive, Conjunctivitis, Hypopigmented skin patches, Hypocalcemia... ORPHA:47
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Alg12-Cdg
Small nail, Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Low posterior hairline, Ta... ORPHA:79324
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles... OMIM:243300
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Prieto Syndrome
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Patellar subluxa... OMIM:309610
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Failure to thrive, Ly... OMIM:102700
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Micromelia, Thoracic hypoplasia, Posterior rib cupping, Metap... OMIM:608728
Noonan Syndrome 12
Spinal canal stenosis, Lymphopenia, 11 pairs of ribs, Thrombocytopenia, Pectus excavatum, Proxima... OMIM:618624
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis, Spotty hyperpigmentation ORPHA:157991
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Reduced natural killer cell count, T lymphocytopenia, Failure to thrive OMIM:242860
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Melanocytic nevus, Abnormal hemoglobin, Decreased skull os... ORPHA:3319
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Di... OMIM:300863
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Alopecia, Hypocalcemia ORPHA:100025
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating aspartate aminotransfera... OMIM:619685
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Horizontal eyebrow, Umbilical hernia, Overlapping toe, Long eyelashes, Bro... OMIM:620475
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Myh9-Related Disease
Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, M... ORPHA:182050
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi... ORPHA:2370
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... ORPHA:331206
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Alopecia, Failure to thrive, Decreased FOXP3-expressing T cell count, E... OMIM:304790
Takenouchi-Kosaki Syndrome
Optic atrophy, Sparse eyebrow, Highly arched eyebrow, Dental malocclusion, Clinodactyly, Abnormal... OMIM:616737
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb... OMIM:609734
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po... ORPHA:294975
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow chest, Lumbar hyperlordosis, Hip contracture, Knee flexion contracture, Scapular winging, ... OMIM:602484
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral bodies, O... ORPHA:93160
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva... ORPHA:247353
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, A... ORPHA:198
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute... OMIM:278000
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi... ORPHA:3111
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... ORPHA:276
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture, Scapular winging, Elevated circulating creatine kinase concent... OMIM:253600
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Aspergillosis
Keratitis, Abnormality of the vertebral column, Abnormal long bone morphology, Eosinophilia, Neut... ORPHA:1163
Momo Syndrome
Obesity, Femoral bowing, Large for gestational age, Short sternum, Short neck, Abnormal bone ossi... ORPHA:2563
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Ankle clonus, Thrombocytopenia, Hypernatremia OMIM:620423
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El... OMIM:606785
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, Eosinophili... ORPHA:169160
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva... OMIM:607330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Obesity, Bell-shaped thorax, Genu valgum, Short ribs, Br... OMIM:615630
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Weight loss, Elevated circulating C-reactive... ORPHA:2070
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hemolytic anemia, Hypernatrem... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hemolytic anemia, Hypernatrem... ORPHA:529799
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Lipodystrophy, Brachydac... OMIM:618048
Immunodeficiency 88
Eosinophilia OMIM:619630
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... OMIM:608776
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R... OMIM:615631
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip... OMIM:156400
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... OMIM:609223
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... ORPHA:911
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Alg8-Cdg
Optic atrophy, Cataract, Failure to thrive, Abnormality of subcutaneous fat tissue, Retinopathy, ... ORPHA:79325
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el... ORPHA:2619
Incontinentia Pigmenti
Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab... ORPHA:464
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu... ORPHA:95715
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased acid sphin... OMIM:607616
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:100085
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Clubbing of fingers, Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Failure to thrive, Splenomegaly, Hypocalcemia, Reduced bone mineral ... ORPHA:172
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onychogryposis, C... OMIM:308300
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Decreased body weight, Broad phalanx, Short phalanx of finger, Short metacarpal... OMIM:618724
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Microretrognathia ORPHA:2867
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia ORPHA:83601
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Short distal phalanx of finger, Cataract, Dental malocclusion, Band keratopathy, Insu... ORPHA:2959
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Syndromic Diarrhea
Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Inguinal hernia, Hypoplasia of the... ORPHA:84064
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Mody
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Glycosu... ORPHA:552
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossification of carpal ... OMIM:618363
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bo... ORPHA:436
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Decreased proportion of class-switched memory B cells, Increased propor... OMIM:615513
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... ORPHA:264580
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Nail dysplasia, Ca... OMIM:175500
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Omenn Syndrome
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thromb... OMIM:603554
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula... OMIM:250250
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Short neck, Neutropenia, Ovoid vertebral bodies, Abnormal... ORPHA:1830
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Missing ribs, Abnorma... ORPHA:1488
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Seve... OMIM:620639
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Camurati-Engelmann Disease
Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dyspl... ORPHA:1328
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Abnormal thorax morphology, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Fail... OMIM:606812
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Joint hypermobility, Short sternum, Shor... ORPHA:3134
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s... OMIM:613091
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp... ORPHA:3098
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Broad clavicles, Narrow chest, Rhizomelia, Aplastic clavicle, Metaphyseal c... ORPHA:50945
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Metatropic Dysplasia
Narrow chest, Scoliosis, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecula... ORPHA:2635
Schneckenbecken Dysplasia
Hypoplastic ilia, Narrow chest, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Achondroplasia
Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Obesity, Limited elbow... ORPHA:15
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Increased LDL ... ORPHA:247598
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm... ORPHA:40
Bleeding Disorder, Platelet-Type, 16