Gene Summary

Name:
PHD and ring finger domains 1
Synonyms:
N/A

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
small uterus Phrf1em1(IMPC)Tcp HOM Early adult 0.00
cataract Phrf1em1(IMPC)Tcp HOM   Early adult 4.41×10-05
short tibia Phrf1em1(IMPC)Tcp HOM Early adult 3.94×10-05
enlarged salivary gland Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal bone structure Phrf1em1(IMPC)Tcp HOM Late adult 2.11×10-05
abnormal kidney morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal salivary gland morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
small spleen Phrf1em1(IMPC)Tcp HOM Late adult 0.00
decreased body length Phrf1em1(IMPC)Tcp HOM Early adult 2.01×10-05
increased circulating triglyceride level Phrf1em1(IMPC)Tcp HOM Early adult 7.19×10-05
abnormal seminal vesicle morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal heart morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal uterus morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
thrombocytopenia Phrf1em1(IMPC)Tcp HOM Late adult 5.31×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

145 Images

Eye Morphology

Images Slit Lamp

138 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

91 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Histopathology

Images

13 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

1 Images

Human diseases caused by Phrf1 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 Phrf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Kimura Disease
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb, Cataract OMIM:274205
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Hypergonadotropic hypogona... OMIM:609441
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Cardiac amyloidosis, Intestinal perforation, Abnormality of t... ORPHA:314652
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Absent thumb, Cryptorchidism, H... OMIM:612447
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Aniridia 3
Cataract OMIM:617142
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Triangular tibia, Absent proximal finger flexion creases, 3-4 finger sy... OMIM:619217
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe OMIM:618010
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Morbid Obesity And Spermatogenic Failure
Oligospermia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholesterol con... OMIM:615703
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Th... ORPHA:3319
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... ORPHA:93322
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Satoyoshi Syndrome
Short metatarsal, Pes planus, Mildly elevated creatine kinase, Genu valgum, Short metacarpal, Ost... OMIM:600705
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Abnormality of the lower limb, Lower limb undergrowth, Abnormali... ORPHA:2310
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Abnormality of the knee, T... ORPHA:3130
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Temple Syndrome
Micrognathia, Small hand, Hypercholesterolemia, Short foot, Hypertriglyceridemia, Cryptorchidism,... OMIM:616222
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Nathalie Syndrome
Cataract ORPHA:2663
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finge... ORPHA:3329
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Lymphadenopathy, Xerostomia, Retrop... ORPHA:449432
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... ORPHA:79493
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Small hand, Cataract OMIM:300261
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Hypocalcemia,... OMIM:607143
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Cataract, Cryptorchidism ORPHA:2489
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hypertriglyceridemia ORPHA:436182
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal cardiac v... ORPHA:85443
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Flexion limitation of toes, Proximal lower li... OMIM:609115
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Transaldolase Deficiency
Biventricular hypertrophy, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial septal defect, Thrombocy... ORPHA:101028
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Cataract, Cryptorchidism, Hypoplasia of... ORPHA:1381
Melioidosis
Abnormality of the spleen, Splenic abscess, Prostatitis, Abnormal parotid gland morphology, Hepat... ORPHA:31202
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis, Nephrotic syndrome OMIM:613606
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Calf muscle hypertrophy ORPHA:280356
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Cryptorchidism OMIM:615597
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Cataract, Split hand OMIM:183800
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Short philtrum, Wide mouth, Micronodul... OMIM:606003
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of finger, Radial deviation of finger, Short foot, Short proxi... OMIM:251190
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Cataract, Delayed ossification of carpal bones, Short ... OMIM:127200
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High palate, A... OMIM:611209
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Oral ulcer, Genital ulcers OMIM:602450
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Lymphopenia, Ileal ulcer, Oral ulcer, Thrombocytopenia, Genital ulcers, Hemolytic anemia OMIM:616744
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Hy... OMIM:612541
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Abnormal palate morphology, Lymphadenopathy, Abnormal lymph... ORPHA:100026
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Hypospadias, Short ribs, Urogenital sinus anomaly, Syndactyly, Abnorma... ORPHA:1505
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract ORPHA:1875
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Splenomegaly... OMIM:613011
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Aminoaciduria, Situs inversus totalis, Thiamine-responsive megaloblast... OMIM:249270
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly,... ORPHA:507
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Osteoporosis, Bone marrow hypocellularity, Abnormality of the... OMIM:613989
Cyclic Neutropenia
Premature loss of permanent teeth, Peritonitis, Lymphadenopathy, Tooth abscess, Periodontitis, Pe... ORPHA:2686
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Hypertriglyceridemia OMIM:606721
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Talipes equinovarus, Small hand, Cataract, Short palm, Hypoplasia of the odontoid process, Cone-s... ORPHA:85172
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Cataract, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Long philtrum, Abnormal heart morphology, Anemia, Cholestasis, Abnormal cardiac sep... OMIM:608104
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Beemer-Ertbruggen Syndrome
Deep philtrum, Ambiguous genitalia, Increased bone mineral density, Thrombocytopenia, Cryptorchidism ORPHA:1237
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Leukopenia, Pericardial effusion, Biliary tract obstruction, Hem... ORPHA:77259
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Bone cyst, Inflammation of the large intestine,... OMIM:181000
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Slc35A2-Cdg
Metatarsus adductus, Increased circulating thyroglobulin level, Talipes equinovarus, Aplasia/hypo... ORPHA:356961
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Micrognathia, Rocker bottom foot, Micropenis, Cataract, Camptodactyly of ... OMIM:610756
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Aniridia And Absent Patella
Aniridia, Aplasia/Hypoplasia of the patella, Cataract OMIM:106220
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Megalocornea, Lateral humeral condyle aplasia, Coxa... OMIM:164900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Abnormal renal physiology, A... ORPHA:158057
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Palmoplantar keratoderma, External genital hypoplasia, Decreased testicular size, Hy... OMIM:610644
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Tubulointerstitial nephritis, Lymphadenopathy, Xerostomia, Re... ORPHA:79078
Preeclampsia
Polycystic ovaries, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney d... ORPHA:275555
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Pericarditis... ORPHA:449395
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Muir-Torre Syndrome
Neoplasm of the stomach, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the liver, Salivary... ORPHA:587
Mietens Syndrome
Microcornea, Metatarsus adductus, Talipes, Sclerocornea, Avascular necrosis of the capital femora... ORPHA:2557
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Cataract OMIM:273680
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Persistence of ... OMIM:259710
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Short metatarsal, Proximal placeme... OMIM:609945
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract OMIM:212540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Micrognathia, Hypoplasia of the uterus, Azoospermia OMIM:601076
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice ORPHA:858
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Enlarged ovaries, Nephritis, Polycystic ovaries, ... ORPHA:2298
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:2123
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Osteoporosis, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dy... OMIM:618280
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Osteoporosis, Anemia, Mal... ORPHA:98850
Martsolf Syndrome 2
Developmental cataract, Hypogonadotropic hypogonadism, Cataract, Camptodactyly of finger, Camptod... OMIM:619420
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Hypospadias, Short finger, Juvenile cataract, Short proximal phalanx of finger, Short metacarpal,... OMIM:191482
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Truncus arteriosus, Ventricular septal defect... OMIM:601186
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Seckel Syndrome 7
Abnormality of the carpal bones, Hip dysplasia, Clinodactyly, Hypoplasia of the uterus OMIM:614851
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... OMIM:619151
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar h... OMIM:119800
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
46,Xy Sex Reversal 11
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Elevate... OMIM:273250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Calf muscle hypertrophy, Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia, ... ORPHA:79312
Congenital Generalized Lipodystrophy
Precocious puberty in females, Large hands, Long foot, Polycystic ovaries, Hypercholesterolemia, ... ORPHA:528
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... ORPHA:2725
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia OMIM:307030
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Kennerknecht Syndrome
Toe syndactyly, Agonadism, Toe clinodactyly, Acetabular dysplasia, Hypoplasia of the uterus OMIM:600908
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Congenital Varicella Syndrome
Micromelia, Cataract ORPHA:291
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Long penis, Coxa vara, Hip dysplasia, Abnormality of fibula mo... ORPHA:1988
Castleman Disease
Ureteral obstruction, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Restrictive cardio... ORPHA:160
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Tooth malposition, Anemia, Amelogenesis imperfe... OMIM:617475
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
External genital hypoplasia, Cataract, Short palm, Short toe, Cryptorchidism OMIM:612947
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Abnor... ORPHA:210136
Aniridia-Absent Patella Syndrome
Aniridia, Aplasia/Hypoplasia of the patella, Cataract, Cryptorchidism ORPHA:1069
Noonan Syndrome 12
Ventricular septal defect, Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Thrombocytop... OMIM:618624
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
Omodysplasia 1
Micrognathia, Popliteal pterygium, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia... OMIM:258315
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Oral ulcer,... ORPHA:3392
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Kahrizi Syndrome
Cataract, Knee flexion contracture, Iris coloboma OMIM:612713
Mirage Syndrome
Hypospadias, Radial club hand, Leukopenia, Anemia, Esophageal stricture, Lymphopenia, Hypergonado... OMIM:617053
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Hypogonadism-Cataract Syndrome
Hypogonadism, Male hypogonadism, Cataract OMIM:240950
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Isolated Agammaglobulinemia
Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Abnormality of the tonsils, ... ORPHA:229717
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta, Autoimmune hemolytic anemia OMIM:612783
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... ORPHA:108
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypertrig... ORPHA:435660
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Sclerosing cholangitis, Hepatitis, Splen... OMIM:308230
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Micropenis, Ankyloglossia, Hypoplastic spleen OMIM:602361
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Stt3B-Cdg
Small scrotum, Thrombocytopenia, Micropenis, Cryptorchidism ORPHA:370924
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, 3-Methylglutaconic aciduria, Cardiomyopathy ORPHA:67048
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Cleft palate, Hypoplastic nipples, Megacystis, Decreased response to growth hormon... OMIM:604292
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Malaria
Thrombocytopenia, Acute kidney injury, Anemia ORPHA:673
Cataract 47
Microcornea, Cataract OMIM:612018
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Methylmalonic aciduria, Homocystinuria, Anemia, Atrial septal defect, Thrombocytopen... OMIM:614857
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Decreased circulating renin level, Hypokalemia, Elevated serum 11-de... OMIM:202010
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Smith-Magenis Syndrome
Pes planus, Hypercholesterolemia, Hypertriglyceridemia, Short palm, Brachydactyly OMIM:182290
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia OMIM:618048
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Cutaneous finger syndactyly, Popliteal pterygium, Intercrural pterygium... OMIM:119500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Thrombocytopenia, Proteinuri... OMIM:254900
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Knee flexion contracture, Iris coloboma ORPHA:171860
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liv... OMIM:619463
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Gingival bleeding, Decreased platelet glycoprotein IIb-IIIa, N... OMIM:173470
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Acute kidney injury, Lymphopenia, Pancytopenia, Thrombocytop... ORPHA:859
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Hyposegmentation of neutrophil nuclei, Gingival overgrowt... OMIM:169400
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, High palate, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Tibial Hemimelia
Absent tibia OMIM:275220
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Smooth philtrum, Intestinal pse... OMIM:300048
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Treacher Collins Syndrome 1
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Abnormal heart mo... OMIM:154500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Laurence-Moon Syndrome
Iris coloboma, Finger syndactyly, Displacement of the urethral meatus, Cataract, Hand polydactyly... ORPHA:2377
Lig4 Syndrome
Pancytopenia, Thrombocytopenia, Micropenis, Cryptorchidism OMIM:606593
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Hydrou... OMIM:598500
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Infantile Spasms-Broad Thumbs Syndrome
Broad thumb, Micrognathia, Vaginal hernia, Cataract ORPHA:3173
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Uterine leiomyoma ORPHA:523
Microtriplication 11Q24.1
Metatarsus adductus, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Short foot, Cl... ORPHA:289522
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Brachydactyly, Hypoplasia of the uterus ORPHA:247768
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Nodular regenerative hyperplasia ... ORPHA:64743
Bernard-Soulier Syndrome
Thrombocytopenia, Gingival bleeding, Giant platelets, Impaired ristocetin-induced platelet aggreg... OMIM:231200
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Osteopetrosis, Anemia, Decreased osteoclast count, Gingival overgrowth, Splenomegal... OMIM:259720
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... ORPHA:290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Uterus didelphys, Preaxial p... OMIM:617925
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Benign Schwannoma
Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph... ORPHA:252164
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Myelofibrosis,... OMIM:139090
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Broad foot, Cataract, Short toe, Cryptorchidi... ORPHA:3085
Wagr Syndrome
Micrognathia, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ambiguous geni... ORPHA:893
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Metatarsus valgus, Avascular necrosis of the ... ORPHA:559
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Goiter OMIM:274240
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypogonadism, Micrognathia, Hypertriglyceridemia, Cryptorchidism OMIM:615381
Autosomal Recessive Stickler Syndrome
Micrognathia, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Cataract, A... ORPHA:250984
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, S... OMIM:259700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Villous atrophy, Glomerulonephritis, Lymphadenopathy, Coombs-positive hemolytic anem... OMIM:304790
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Idiopathic Aplastic Anemia
Neutropenia, Gingival bleeding, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytope... ORPHA:88
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... OMIM:616050
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Rhabdoid Tumor
Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Meacham Syndrome
Hydrometrocolpos, Horseshoe kidney, Abnormality of the spleen, Abnormal vagina morphology, Ventri... ORPHA:3097
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Malabsorption, Oral ulcer, Thrombocytopenia, Folate-responsive megalobla... OMIM:229050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Cleft palate, Hypoplastic nipples, Oligodontia, Decreased response to growth hormo... OMIM:129900
Nephrotic Syndrome, Type 14
Hypogonadism, Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellulari... ORPHA:381
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... ORPHA:398124
Igg4-Related Ophthalmic Disease
Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Retroperitoneal... ORPHA:449563
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... ORPHA:47612
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, T... OMIM:222300
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Senior-Loken Syndrome
Cataract, Cone-shaped epiphysis, Premature ovarian insufficiency ORPHA:3156
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Ventricular septal defect, Sideroblastic anemia OMIM:617021
Saul-Wilson Syndrome
Micrognathia, Talipes equinovarus, Short metatarsal, Short metacarpal, Short distal phalanx of fi... OMIM:618150
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ... OMIM:619644
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the l... ORPHA:50918
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Smith-Magenis Syndrome
Microcornea, Toe syndactyly, Micrognathia, Pes planus, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:819
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Short philtrum, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, A... OMIM:603585
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Stomatitis, Lymphadenopathy, Hematuria,... ORPHA:520
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Inflammation of the large intestine, Esophageal varix, P... OMIM:614576
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Cleft upper lip, Clitoral hypertrophy, Congenital adrenal hyperplasia, Thrombocytop... ORPHA:96181
Smith-Kingsmore Syndrome
Smooth philtrum, Wide mouth, Long philtrum, Open mouth, Thin upper lip vermilion, Thrombocytopeni... OMIM:616638
Lacrimoauriculodentodigital Syndrome
Carious teeth, Renal hypoplasia, Hydronephrosis, Abnormal salivary gland morphology, Hypodontia, ... ORPHA:2363
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopen... ORPHA:27
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ureteral duplication, Hydronephrosis, Ventricular septal defect, Wid... OMIM:610733
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Cataract, Short distal phalanx of finger, Epiphyseal stippling OMIM:302950
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Esophageal varix, Bon... OMIM:278000
Linear Verrucous Nevus Syndrome
Toe syndactyly, Talipes, Hypophosphatemia, Genu recurvatum, Iris coloboma, Short metacarpal, Cata... ORPHA:2611
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Osteoporosis, Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Thrombocyt... OMIM:613990
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Aplasia of the uterus, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... OMIM:617718
Blau Syndrome
Abnormal salivary gland morphology, Pericarditis, Lymphadenopathy, Xerostomia, Anemia, Stage 5 ch... ORPHA:90340
Pseudo-Torch Syndrome 1
Hepatomegaly, High palate, Long philtrum, Splenomegaly, Thrombocytopenia, Renal insufficiency, Ja... OMIM:251290
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Peroxisome Biogenesis Disorder 9B
Pes cavus, Cataract, Elevated levels of phytanic acid OMIM:614879
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Takenouchi-Kosaki Syndrome
Hypospadias, Widely spaced teeth, Hydronephrosis, Increased mean platelet volume, Smooth philtrum... OMIM:616737
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Microdontia, Nephrot... OMIM:242900
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Hypoplasia of the ovary, Hypertriglyceridemia, Hypergonadotropic hypog... ORPHA:66628
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270