Gene Summary

septin 5
Pnutl1,  Cdcrel1,  Sept5

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
short tibia Septin5tm1b(EUCOMM)Hmgu HET Early adult 6.68×10-06
abnormal bone structure Septin5tm1b(EUCOMM)Hmgu HET Early adult 2.80×10-05
improved glucose tolerance Septin5tm1b(EUCOMM)Hmgu HET   Early adult 1.74×10-05
decreased bone mineral density Septin5tm1b(EUCOMM)Hmgu HET Early adult 4.75×10-05
decreased body length Septin5tm1b(EUCOMM)Hmgu HET Early adult 7.70×10-05
thrombocytopenia Septin5tm1b(EUCOMM)Hmgu HET Early adult 2.79×10-10
decreased bone mineral content Septin5tm1b(EUCOMM)Hmgu HET Early adult 1.58×10-06
small spleen Septin5tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, incomplete penetrance Septin5tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 0.0% (0 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 100% (4 of 4)
Duodenum  Wholemount images heterozygote 100% (4 of 4)
Epididymis  Wholemount images heterozygote Not available
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Heart  Wholemount images heterozygote 100% (4 of 4)
Hindlimb  Wholemount images heterozygote 100% (4 of 4)
Ileum  Wholemount images heterozygote 100% (4 of 4)
Jejunum  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Main olfactory bulb  Wholemount images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Oral epithelium  Wholemount images heterozygote 100% (4 of 4)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Parotid gland  Wholemount images heterozygote Ambiguous
Penis  Wholemount images heterozygote 50% (2 of 4)
Peyer's patch  Wholemount images heterozygote 75% (3 of 4)
Pituitary gland  Wholemount images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote 100% (4 of 4)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 100% (4 of 4)
Urinary bladder  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote Not available
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote Not available
Brainstem N/A heterozygote 100% (4 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Colon N/A heterozygote 100% (4 of 4)
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 100% (4 of 4)
Hypothalamus N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 100% (4 of 4)
Thalamus N/A heterozygote 100% (4 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 100% (4 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Ear N/A heterozygote 0.0% (0 of 13)
Embryo N/A heterozygote 100% (13 of 13)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 53.85% (7 of 13)
Eye N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (13 of 13)
Forelimb N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (13 of 13)
Head N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (13 of 13)
Hindlimb N/A heterozygote 53.85% (7 of 13)
Hindlimb N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Tail N/A homozygote Ambiguous
Brain N/A heterozygote 100% (13 of 13)
Brain N/A homozygote 100% (1 of 1)
Ear N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 13)
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote 100% (13 of 13)
Forearm N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 53.85% (7 of 13)
Forebrain N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 13)
Handplate N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 13)
Heart N/A homozygote Ambiguous
Hindbrain N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 13)
Liver N/A homozygote 0.0% (0 of 1)
Lower leg N/A heterozygote 53.85% (7 of 13)
Lower leg N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 13)
Lung N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 13)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 13)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 13)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 13)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 13)
Upper arm N/A heterozygote 76.92% (10 of 13)
Upper arm N/A homozygote 100% (1 of 1)
Upper leg N/A heterozygote 53.85% (7 of 13)
Upper leg N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)

Associated Images

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


XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

175 Images

Embryo LacZ

LacZ images wholemount

196 Images

Eye Morphology

Images Ophthalmoscopy

1 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


4 Images

Human diseases caused by Septin5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Septin5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Anemia, Osteopenia, Hepatosplenomegaly OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinod... ORPHA:71289
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, D... OMIM:231095
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Osteopeni... OMIM:617475
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Mental Retardation, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Wt Limb-Blood Syndrome
Radioulnar synostosis, Short phalanx of finger, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Gray Platelet Syndrome
Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-induced platelet ag... OMIM:139090
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Thrombocyto... ORPHA:2785
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... OMIM:611490
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity, Thrombocytopenia, Metaphyseal dysplasia, Hepatomegaly, Diaphyseal dys... OMIM:614727
Stuve-Wiedemann Syndrome
Short phalanx of finger, Pathologic fracture, Micrognathia, Elbow flexion contracture, Femoral bo... OMIM:601559
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cran... OMIM:259710
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Duplication of thumb phalanx, Anemia, Short thumb, Bone marrow hy... OMIM:616435
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:277480
Huntington Disease-Like 2
Dementia, Depression, Apathy, Action tremor, Irritability, Anxiety OMIM:606438
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Gout, Diabetes mellitus OMIM:610947
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Gian... OMIM:231200
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Dk Phocomelia Syndrome
Thrombocytopenia, Phocomelia OMIM:223340
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Resting tremor, Dementia, Depression OMIM:605909
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, ... ORPHA:848
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, Pancytopenia, Th... OMIM:259700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Congenital thrombocytopenia, Neutropenia, Thrombocyto... OMIM:616738
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Camptodactyly of finger, Joint hypermobility, Craniosynostosis, Abnormality of long bone morpholo... ORPHA:356961
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... ORPHA:93356
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Recurrent fractures, Generalized os... ORPHA:210110
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... OMIM:605432
Dopa-Responsive Dystonia
Tremor, Depression, Abnormal social behavior, Agoraphobia, Emotional lability, Panic attack, Fati... ORPHA:255
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnor... ORPHA:100026
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia, Myelofibrosis OMIM:616937
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Estrogen Resistance
Glucose intolerance, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Thrombocytopenia, Abnormal platelet morphology OMIM:300835
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Hemolytic anemia, Thrombocytopenia, Clinodactyly of the 5th toe, Jaundice, Hepatomegaly, Leukopen... ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Clinodactyly, Brachydactyly, Lymphadenopathy OMIM:618048
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, Pa... ORPHA:98850
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ankle clonus, Pancytopenia, Thrombocytopenia, Hypopla... OMIM:159550
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate beha... ORPHA:309246
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Pedal edema, Increased bone mineral density, Pancytopenia, Thrombocytopeni... ORPHA:77259
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus OMIM:598500
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Rhizomelia, Camptodactyly, Thrombocytopenia, Small hand, Anemia, Short foot,... OMIM:611209
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:188025
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Micrognathia, Increased bone mineral density ORPHA:1237
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Impulsivity, Aggressive behavior ORPHA:101039
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly, Abnorma... ORPHA:290
Shwachman-Diamond Syndrome 1
Metaphyseal widening, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Abnormality of neutrophils, P... OMIM:169400
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Clinodactyly of the... ORPHA:229717
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Semantic dementia, Memory impairment ORPHA:1020
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... OMIM:307800
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Adducted thumb OMIM:601815
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepato... OMIM:259720
Felty Syndrome
Osteolysis, Abnormal lymphocyte morphology, Synovitis, Neutropenia, Thrombocytopenia, Hepatomegal... ORPHA:47612
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Limited e... OMIM:258315
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hypoglycemia ORPHA:67048
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:618116
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Abnormality of femur morphology, Abnormality of the isch... ORPHA:464329
Tay-Sachs Disease
Apathy, Exaggerated startle response, Psychomotor deterioration, Dementia OMIM:272800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Gracile Bone Dysplasia
Slender long bone, Asplenia, Flared metaphysis, Decreased skull ossification, Hypoplastic spleen,... OMIM:602361
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613989
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Dementia, Depression, Apathy, Panic attack, Impulsivity, An... ORPHA:2828
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Edema of the do... OMIM:274000
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Thrombocytopenia, Abnormality of the hepatic vasculature, Type I diabetes mellitus ORPHA:275555
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly... OMIM:617925
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Stiff Person Spectrum Disorder
Exaggerated startle response, Agoraphobia, Anxiety, Emotional lability ORPHA:3198
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Thrombocytopenia, Anemia ORPHA:673
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Flexion contracture, Pancytopenia, Thrombocytopenia, Hepatome... ORPHA:85212
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Occipital Horn Syndrome
Large iliac wing, Pes planus, Jaundice, Abnormality of fibula morphology, Aplastic clavicle, Oste... ORPHA:198
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Myelofibrosis, Absence of alpha granules OMIM:187900
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Hsd10 Disease
Abnormal social behavior, Tremor ORPHA:391417
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Interphalangeal joint contracture of f... ORPHA:96334
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Cirrhosis, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Lymphopenia, Hypoglycemia, Thrombocyto... OMIM:617053
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Pancytopenia, Thrombocytopenia, Hepatomegaly, Pathologi... OMIM:230800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets OMIM:210250
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Long thumb, Anemia, Leukopenia, Bone marrow hypocellula... OMIM:619151
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Osteopenia, Later... OMIM:242900
Propionic Acidemia
Osteoporosis, Neutropenia, Hypoglycemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pa... OMIM:606054
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:858
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Normoc... ORPHA:98849
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, O... ORPHA:811
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia ORPHA:101028
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Sengers Syndrome
Thrombocytopenia OMIM:212350
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Patholog... ORPHA:905
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:264700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Metaphyseal sclerosis, Bowing of the long bones, Thrombocytopenia, Pat... OMIM:612199
Griscelli Syndrome
Abnormality of neutrophils, Pedal edema, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leu... ORPHA:381
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Proximal placement of thumb, 11 pairs of ribs OMIM:618624
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Thrombocytopen... ORPHA:210136
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... ORPHA:1427
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Abnormal social behavior ORPHA:444002
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Clubbing of fingers, Autoimmune thrombocyt... OMIM:614700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia OMIM:249270
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:277440
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Anemia, Talipes equinovarus OMIM:608104
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Hypoplastic spleen, Adducted thumb ORPHA:89844
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Tonne-Kalscheuer Syndrome
Tremor, Shyness, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:300978
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Rhizomelia, Deep plantar creases, Hypoglycemia, Short distal ph... OMIM:616638
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Thrombocytopenia, Anemia, Mediastinal l... ORPHA:3392
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Neutropenia, Hypoplasia of the thymu... OMIM:612541
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia, Arthritis OMIM:152700
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Finger swelling, Thrombocytopenia, Hepatomegaly, Anemia, Spleno... OMIM:617591
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lymphadenopathy, Anemia, Thymoma,... ORPHA:169105
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Macrocytic anemia ORPHA:27
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... OMIM:608233
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Anemia, Abnormality of the lymphatic system, Abnormalit... ORPHA:47
Adams-Oliver Syndrome
Absent hand, Cirrhosis, Talipes, Finger syndactyly, Split hand, Abnormality of the metacarpal bon... ORPHA:974
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Foot oligodactyly... OMIM:206920
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Farber Disease
Osteoporosis, Abnormality of the knee, Short finger, Flexion contracture, Intrahepatic cholestasi... ORPHA:333
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Childhood Absence Epilepsy
Low self esteem, Abnormal social behavior, Anxiety, Depression ORPHA:64280
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypo... OMIM:127550
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Congenital hip dislocation, Short metatarsal, Short th... OMIM:304120
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Limited mobility of proximal interp... OMIM:222300
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Cholelithiasis, Thrombocytopenia, Pathologic fracture, Joint contra... OMIM:263700
Roberts Syndrome
Craniosynostosis, Sandal gap, Wrist flexion contracture, Phocomelia, Complete duplication of thum... ORPHA:3103
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613990
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia ORPHA:324636
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Decreased calvarial ossification, Recurrent fractures, Severe generalized os... OMIM:259420
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Rocker bottom foot, Arthrogryposis multiplex congenita, Craniosynostosis, Po... OMIM:301056
Metachromatic Leukodystrophy, Adult Form
Dementia, Depression, Abnormal social behavior, Emotional lability, Progressive psychomotor deter... ORPHA:309271
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Flexion contracture, Macrovesicular hepatic steatosis, Neutropenia, Thrombocyt... OMIM:617303
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Tibial Hemimelia
Absent tibia OMIM:275220
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Type II diabetes mellitus, Ulnar bowing, Narrow pelvis bone, Limi... OMIM:210720
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Tibial bowing, Osteomalacia, I... ORPHA:289157
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Osteogenesis Imperfecta, Type Viii
Radial bowing, Joint laxity, Externally rotated/abducted legs, Recurrent fractures, Tibial bowing... OMIM:610915
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Abnormality of the plantar skin of foot, Leukopenia, Cervical ... ORPHA:83313
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Jaundice, A... ORPHA:160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Hyperekplexia 3