Gene Summary

matrix metallopeptidase 2
gelatinase A,  GelA,  Clg4a,  MMP-2,  72kDa type IV collagenase,  72kDa gelatinase

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
decreased bone mineral content Mmp2em1(IMPC)Mbp HOM   Late adult 3.06×10-10
abnormal heart morphology Mmp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged stomach Mmp2em1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Mmp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Mmp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Mmp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Mmp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Mmp2em1(IMPC)Mbp HOM Late adult 0.00
small kidney Mmp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal seminal vesicle morphology Mmp2em1(IMPC)Mbp HOM Late adult 0.00
decreased body length Mmp2em1(IMPC)Mbp HOM   Late adult 2.66×10-11
abnormal skin morphology Mmp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal bone structure Mmp2em1(IMPC)Mbp HOM Early adult 4.76×10-10
decreased prepulse inhibition Mmp2em1(IMPC)Mbp HOM   Early adult 6.35×10-06
cataract Mmp2em1(IMPC)Mbp HOM   Early adult 2.55×10-06
enlarged lymph nodes Mmp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Mmp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Mmp2em1(IMPC)Mbp HOM Late adult 0.00

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

45 Images


XRay Images Whole Body Dorso Ventral

36 Images


XRay Images Whole Body Lateral Orientation

15 Images


XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Mmp2 mutations

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

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

The table below shows human diseases associated to Mmp2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... OMIM:259600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Hypertension, Abnormality of the orbital region, Brachycephaly, Osteolysis inv... ORPHA:371428

The table below shows human diseases predicted to be associated to Mmp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar... ORPHA:564003
Optic atrophy, Diaphyseal thickening, Ptosis, Abnormal cortical bone morphology, Finger syndactyl... ORPHA:3152
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Co... ORPHA:166277
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Large fontanelles, Brachy... ORPHA:2097
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone ... ORPHA:3416
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of epiphysis morphology... ORPHA:970
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni... ORPHA:563991
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone ... ORPHA:2790
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... ORPHA:566943
Eczema, Abnormality of the knee, Large fontanelles, Osteoarthritis, Abnormal cortical bone morpho... ORPHA:1525
Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Wormian bones, ... OMIM:265800
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal... ORPHA:2787
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Micrognathia, Thin bony cortex, Overtubulated long bones, Malar fl... ORPHA:85184
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... OMIM:275595
Spondyloepiphyseal Dysplasia, Nishimura Type
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Increased bon... ORPHA:163649
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Sparse lateral eyebrow, Short nose, Telecanthus, Wormia... OMIM:601224
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Prominent nasal bridge OMIM:608432
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... ORPHA:50809
Proteus Syndrome
Limbal dermoid, Mandibular hyperostosis, Thin bony cortex, Depressed nasal bridge, Ptosis, Downsl... OMIM:176920
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, Depressed nasal bridge, Osteoporosis, Malar flattening, Wormian... OMIM:613849
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... OMIM:614188
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose, Microretrognathia OMIM:218010
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ... OMIM:259610
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacarpal, Patellar ... OMIM:614078
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Wormian bones, Prominent nasal bridge, Osteopenia, ... OMIM:601812
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Bowing of the long bones, Long eyelashes, Wormian bones, Generali... OMIM:617952
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Short distal phalanx of finger, Midface retrusion, Hypoplasia of the maxilla, Os... ORPHA:2776
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlar... OMIM:600081
Ck Syndrome
Micrognathia, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Epicanthus, Abnormal ... OMIM:300831
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Limited knee extension, Dela... OMIM:600969
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... ORPHA:93308
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphysis, Short nose, Small hand, Delayed epiphyseal ossification, Midface retrusion... OMIM:618618
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Wrist swelling, Metatarsal osteolysis, Micrognathia, Ankle swelling, Metacarpal ost... OMIM:166300
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Ptosis, Long fingers, Upslanted palpebral fissure, Short nose, Malar flattening, ... OMIM:613458
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly, Short nose, Anteverted nares, Prominent metopic ridge ORPHA:46
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Large fontanelles, Mandibular aplasia, Short nose, Retrognat... ORPHA:1832
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Depressed nasal bridge, Mandibular prognathia, Diaphyseal sclerosis, Concave nasal... OMIM:122860
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Downslanted... ORPHA:1529
Albers-Schönberg Osteopetrosis
Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, Jo... ORPHA:53
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Polyarticular arthritis, Synovitis, Abnormality of epiphysis mor... ORPHA:85435
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Depressed nasal ridge, Short nose, Epicanthus, Oxycephaly, Genu recurvatum, Premature closure of ... ORPHA:221054
Mental Retardation, X-Linked 91
Cubitus valgus, Small hand, Epicanthus, Short 5th finger, Short nose, Short foot, Clinodactyly OMIM:300577
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Hypertension, Osteopoikilosis, Abnormal... ORPHA:1879
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... OMIM:609655
Gorham-Stout Disease
Abnormality of ethmoid bone, Abnormality of femur morphology, Osteolysis involving bones of the l... ORPHA:73
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, Brachycephaly, Short nose, Downslanted ... ORPHA:1695
Trigonocephaly 2
Trigonocephaly, Metopic synostosis OMIM:614485
Cardiomegaly OMIM:227150
Vitamin D-Dependent Rickets, Type 2A
Flat occiput, Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone ... OMIM:277440
Pfeiffer Syndrome
Brachyturricephaly, Elbow ankylosis, Depressed nasal bridge, Cloverleaf skull, Choanal stenosis, ... OMIM:101600
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Short nose, Long eyelashes, Wide n... OMIM:618577
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ric... OMIM:264700
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Bowing of the long bones, Abnormal cortical bone morphology, Abnor... ORPHA:2484
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, Short nose, Epicanthus, Malar flattening, Sandal gap, Thick eyebrow... ORPHA:217340
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Wormian bones, Abnormal joint morphology, Platybasia OMIM:166230
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Ptosis, Narrow pelvis b... OMIM:616723
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures,... OMIM:604922
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis, Intrauterine growth retardation OMIM:619441
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Depressed nasal bridge, Ptosis, Upslanted palpebral fissure, Craniosynosto... OMIM:145420
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Hypoplasia of the ra... ORPHA:950
Metatropic Dysplasia
Depressed nasal bridge, Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse ... ORPHA:2635
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Infectious encephalitis, Intrauterine growth retardation, Growth del... ORPHA:1194
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Wormian bones, Femoral bowing, Broad thumb, Short 4th met... OMIM:619638
Hao-Fountain Syndrome
Hallux valgus, Large fontanelles, Trigonocephaly, Delayed cranial suture closure, Clinodactyly of... OMIM:616863
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial suture closure... OMIM:175700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Midface retrusion, Congenital bilateral hip dislocation, Increased susceptibility to fractures, M... OMIM:130060
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Depressed nasal bridge, Large fontanelles, Brachycephaly, Bowing of... ORPHA:171839
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Cranial asymmetry, Delayed closure of the anterior fontanelle, Epicanthus, Abnorm... OMIM:614886
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Burkitt lymphoma, Fulminant hepatitis, Lymphoma, Meningitis, Severe Epst... OMIM:308240
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Short metatarsal, Short nose, Malar flattening, Short 1st... OMIM:251450
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Wormian bones, Osteopenia, Joint hypermobility, Recurren... OMIM:610967
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Broad jaw, Increased bone min... ORPHA:178377
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Depressed nasal bridge, Craniosynostosis, Short no... ORPHA:93329
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Broad jaw, Osteopenia, Mandibular osteo... ORPHA:53697
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... OMIM:259600
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Ptosis, Cubitus valgus, Epicanthus, Short nose, Genu recurvatum, Reduced bone mine... ORPHA:1185
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlar... OMIM:241530
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Ptosis, Mandibular prognat... ORPHA:2511
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Depressed nasal ridge, Sparse eyelashes, Craniosynostosis, Telecanthus, Wi... ORPHA:178303
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormality of the elbow, Abnormal cortical bone morphology, Slender long bone, Lim... ORPHA:1486
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Recurrent fractures, Wormian bones ORPHA:2773
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Cardiomyopathy, Autoimmune antibody positivity, Congestive ... ORPHA:3386
Genu varum, Malar flattening, Frontal bossing, Limited elbow extension, Abnormality of pelvic gir... OMIM:146000
Dysostosis, Stanescu Type
Carious teeth, Convex nasal ridge, Brachycephaly, Abnormality of epiphysis morphology, Bowing of ... ORPHA:1798
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Malar flattening, Delayed epiphyseal ossification, Wide anteri... OMIM:601561
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
L-2-Hydroxyglutaric Aciduria
Neoplasm of the nervous system, Infectious encephalitis ORPHA:79314
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Midface retrusion, Epiphyseal dysplasia, Malar flattening, Anteverted nares, ... OMIM:184840
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Cor pulmonale, Infectious encephalitis, Pyoderma, Enteroviral d... OMIM:300755
Q Fever
Myocarditis, Hepatitis, Rheumatoid factor positive, Vasculitis, Maculopapular exanthema, Abnormal... ORPHA:781
Buschke-Ollendorff Syndrome
Flat occiput, Cutaneous finger syndactyly, Hypertension, Abnormality of epiphysis morphology, Gen... ORPHA:1306
Antley-Bixler Syndrome
Femoral bowing, Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Short nose,... ORPHA:83
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Broad long bones, Mandibular prognathia, Cubitus valgus, Malar flatten... OMIM:269300
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis, Hypotension ORPHA:99825
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... OMIM:265900
Summitt Syndrome
Plagiocephaly, Depressed nasal ridge, Wide nose, Craniosynostosis, Epicanthus, Finger syndactyly,... ORPHA:3210
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Brachycephaly, Craniosynostosis, Short nose, Malar flattening, ... ORPHA:2145
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Midface retrusion, Short nose, Malar flattening, Frontal bossing, Antever... OMIM:613038
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Midface retrusion, Short nose, Arachnodactyly, Downslanted palpebral fissures, Fron... ORPHA:1129
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Supernumerary tooth, Abnormal bone structure, Multiple impacted tee... ORPHA:83451
Ring Chromosome 8 Syndrome
Short nose, Epicanthus, Deviation of finger, Frontal bossing, Anteverted nares ORPHA:1450
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, Thickened calvaria, Large fontanelles, Brachycephaly, Osteopetrosis, ... ORPHA:2780
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Delayed ossification of carpal bones, Pre... OMIM:105835
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Large beaked nose, Metopic suture patent to nasal root, Trigonocephaly... ORPHA:3369
Familial Osteodysplasia, Anderson Type
Carious teeth, Prominent nose, Bifid femur, Depressed nasal ridge, Hypertension, Failure of erupt... ORPHA:2769
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets... ORPHA:289157
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Micrognathia, Depressed nasal bridge, Upslanted palpebral fissure, Epicant... OMIM:614541
Crouzon Disease
Optic atrophy, Convex nasal ridge, Brachycephaly, Ptosis, Frontal bossing, Turricephaly, Midface ... ORPHA:207
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short 4th metacarpal, Epiphyseal stippling, Malar fl... OMIM:118651
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Midface retrusion, Retinal neovascularization, Micrognathia OMIM:619074
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 61
Agammaglobulinemia, Recurrent sinusitis, Arthritis, Recurrent otitis media OMIM:300310
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Stickler Syndrome Type 1
Abnormality of epiphysis morphology, Short nose, Joint hyperflexibility, Retinal detachment, Abno... ORPHA:90653
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Abnormality of epiphysis morphology, Short met... ORPHA:93351
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Osteoporosis, Gout, Myocardial infarction, Sudden cardiac death OMIM:610947
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Convex nasal ridge, P... ORPHA:1540
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Depressed nasal bridge, Hip osteoarthritis, Frontal bossing, Short thumb, Broad hallux, Midface r... OMIM:165800
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis OMIM:216950
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Short ... OMIM:271530
Lyme Disease
Infectious encephalitis, Atrioventricular block, Arthritis, Meningitis, Uveitis, Arrhythmia ORPHA:91546
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Abnormality of the knee, Epicanthus, Congenital hip dislocation, Wide nasa... ORPHA:2412
Micrognathia, Abnormality of bone mineral density, Short nose, Frontal bossing, Anteverted nares,... ORPHA:932
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Small epiphyses, Genu varum, Flattened knee epiphyses, Knee osteoarthritis, ... OMIM:600204
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, Malar flattenin... OMIM:311300
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Osteopetrosis, Autosomal Dominant 1
Thickened calvaria, Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Ca... OMIM:607634
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... OMIM:167730
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Tibial bowing, Pulmonary arterial hypertension, M... OMIM:259420
Infectious encephalitis, Epistaxis, Gastrointestinal hemorrhage, Cardiac arrest, Skin rash, Arrhy... ORPHA:99745
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short columella, Short nose... ORPHA:1248
Roifman-Chitayat Syndrome
Optic atrophy, Depressed nasal bridge, Cone-shaped epiphysis, Pneumonia, Short metatarsal, Lacrim... OMIM:613328
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Lowry-Maclean Syndrome
Small anterior fontanelle, Micrognathia, Convex nasal ridge, Trigonocephaly, Talon cusp, Craniosy... ORPHA:2409
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Short nose, Long eyelashes, Finger syndactyly, Thick eyebrow, Narrow... ORPHA:1514
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni... OMIM:601559
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Craniosynostosis, Malar flattening, Oxycephaly, Pr... OMIM:101120
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormality of the metaphysis, Reduced bone mineral density, Brachydactyly, Hip dyspl... ORPHA:2370
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Thickened calvaria, Large fontanelles, Ptosis, Seborrheic dermatitis, Oste... OMIM:259100
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyelashes, Depressed nasal bridge, Tapered finger, Craniosynostosis... OMIM:608156
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Short nose, Malar flattening, Toe c... ORPHA:457395
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Marshall-Smith Syndrome
Optic atrophy, Increased susceptibility to fractures, Craniosynostosis, Bowing of the long bones,... ORPHA:561
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short middle phalanx of finger, Hip osteoarthritis, Abnormality of epiphysis morphology, Delayed ... ORPHA:63442
Flat occiput, Depressed nasal bridge, Large fontanelles, Tapered finger, Abnormality of epiphysis... ORPHA:2746
Otopalatodigital Syndrome Type 1
Thickened calvaria, Depressed nasal bridge, Hypoplastic frontal sinuses, Abnormal vertebral segme... ORPHA:90650
Menkes Disease
Intracranial hemorrhage, Brachycephaly, Metaphyseal widening, Joint laxity, Osteoporosis, Wormian... OMIM:309400
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, Long eyelashes, Downslanted palpebral fissures, Wormian bones, Wide nasal bridge, D... ORPHA:2863
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Short stature, He... ORPHA:391487
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Convex nasal ridge, Short middle phalanx of the 5th ... OMIM:156510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Pneumonia, Short nose, Epicanthus, Decreased circulating antibody level, ... OMIM:614069
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Flat capital femoral epiphys... OMIM:614135
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Cherry red spot of the macula, Arthritis, Splenomegaly, J... OMIM:228000
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Achondrogenesis Type 1A
Micrognathia, Short nose, Frontal bossing, Short foot, Short palm, Anteverted nares, Recurrent fr... ORPHA:93299
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, Highly arched eyebrow, Depressed nasal bridge, Dental malocclusion... ORPHA:1327
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormality of epiphysis morphology... ORPHA:324964
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Anteverted nares, Abnormal pelvis bone morphology, Abnormally ossified vert... ORPHA:1427
Chromosome 3Pter-P25 Deletion Syndrome
Low hanging columella, Macular hypoplasia, Anteverted nares, Highly arched eyebrow, Micrognathia,... OMIM:613792
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Midface retrusion OMIM:618379
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Disharmonious carpal bone, Genu valgum, Osteopenia, Slender long bones with narro... OMIM:608154
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Depressed nasal bridge, Mandibular prognathia, Chronic otitis media, Bowing of the long bones, Hy... ORPHA:61
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Knee dislocation, Micrognathia, Thin eyebrow, Bilateral ptosis, Osteoporosis, Shou... OMIM:618000
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Developmental Dysplasia Of The Hip 2
Arthritis, Coxa valga, Hip dysplasia, Hip osteoarthritis OMIM:615612
Frontonasal Dysplasia 1
Broad nasal tip, Ptosis, Hypoplastic frontal sinuses, Short columella, Epicanthus, Joint contract... OMIM:136760
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... OMIM:611702
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Downslanted palpebral fissures, ... OMIM:601853
Carpenter Syndrome 1
Genu varum, Telecanthus, Joint contracture of the hand, Malar flattening, Deviation of finger, Sh... OMIM:201000
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic arthritis... ORPHA:36234
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Recurrent protozoan infecti... OMIM:209920
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Metatarsal periosteal thickening, Foot acroosteolysis, Gastric hypertrophy, Perios... OMIM:161700
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Meningitis, Skin rash, Hypotension ORPHA:83317
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Arthralgia of the hip, Abnormality of the knee, Fragmentation of the metacarpal epiph... ORPHA:166002
Eng-Strom Syndrome
Brachydactyly, Arthritis, Camptodactyly of finger ORPHA:1937
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Limited elbow exte... ORPHA:93320
Retinal Venous Beading
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... OMIM:180080
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Mollus... OMIM:618982
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Flattened metacarpal heads, Constrictive pericarditis, Congenital finger fl... OMIM:208250
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Ptosis, Epicant... OMIM:615546
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Dela... ORPHA:763
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, ... ORPHA:79301
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Sinusitis, Intracranial hemorrhage, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis... ORPHA:1163
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Oculodentodigital Dysplasia
Carious teeth, Thin anteverted nares, Short nose, Abnormal dental enamel morphology, Finger synda... ORPHA:2710
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ... ORPHA:166272
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fifth finger distal phalanx clinodactyly, Telecanthus, Abnormal dental enamel m... OMIM:257850
17P13.3 Microduplication Syndrome
Wide nose, Short nose, Downslanted palpebral fissures, Congenital hip dislocation, Frontal bossin... ORPHA:217385
Achondrogenesis Type 1B
Micrognathia, Short nose, Frontal bossing, Short foot, Anteverted nares, Abnormal enchondral ossi... ORPHA:93298
Wild Type Abeta2M Amyloidosis
Bone cyst, Arthritis, Gastrointestinal hemorrhage, Congestive heart failure, Arthropathy, Arrhyth... ORPHA:85446
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Micrognathia, Adducted thumb, Decreased fibular diameter, Brachyceph... OMIM:616897
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Narrow palpebral fissure, Micrognathia, Short nose, Epicanthus, Downslanted palpebral fissures, F... OMIM:613604
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Convex nasal ridge, Brachycephaly, Ptosis, Malar flattening, Frontal bossing, Abno... ORPHA:93262
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Ptosis, Epicant... OMIM:601390
Atelosteogenesis, Type Iii
Knee dislocation, Tibial bowing, Radial bowing, Midface retrusion, Depressed nasal bridge, Microg... OMIM:108721
Hypomandibular Faciocranial Dysostosis
Micrognathia, Malar flattening, Optic disc coloboma, Choanal stenosis, Coronal craniosynostosis, ... OMIM:241310
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Reduced bone mineral density, Cholestasis, Jaundice ORPHA:172
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormality of limb bone morphology, Abnormal cortical bone morph... ORPHA:2204
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Vasculitis, Increased circulating IgM level, Incre... ORPHA:37748
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Small anterior fontanelle, Micrognathia, Depressed nasal bridge, Short nose, Long eyelashes OMIM:617802
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose, Epicanthus ORPHA:2015
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... OMIM:166600
Crouzon Syndrome
Conjunctivitis, Optic atrophy, Shallow orbits, Brachycephaly, Mandibular prognathia, Keratitis, F... OMIM:123500
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Micrognathia, Prominent metopic ridge, Arthro... ORPHA:1466
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Optic atrophy, Upslanted palpebral fissure, Bulbous nose, Thick eyebrow, Midface retrusion, Hypop... OMIM:618737
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Wide nose, Short nose, Epicanthus, Genu valgum, Dev... ORPHA:2831
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... ORPHA:97290
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Long eyelashes, Dislocated radial head, Arachnodactyly, Wormian bones, Joint hyperm... OMIM:614856
Pierpont Syndrome
Narrow palpebral fissure, Broad nasal tip, Short finger, Brachycephaly, Wide nose, Short nose, Te... OMIM:602342
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Flat occiput, Arthritis, Lymphopenia, Limitation of joint mobility, Eosinophilia ORPHA:2582
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Chronic otitis media, Abnormal dental enamel morphology, Delayed erupti... ORPHA:1452
Craniosynostosis 4
Flat occiput, Anterior plagiocephaly, Optic nerve hypoplasia, Short nose, Malar flattening, Front... OMIM:600775
Ohdo Syndrome
Micrognathia, Depressed nasal bridge, Ptosis, Short nose, Epicanthus, Wide nasal bridge, Hypoplas... OMIM:249620
Progressive Osseous Heteroplasia
Brachydactyly, Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility ORPHA:2762
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Short lower limbs, Multiple prenatal fractures, Wormian bones, ... OMIM:259440
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Generaliz... ORPHA:89936
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... ORPHA:319487
Van Den Ende-Gupta Syndrome
Hallux valgus, Malar flattening, Joint contracture of the hand, Long hallux, Femoral bowing, Hypo... OMIM:600920
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Metaphyseal cupping, Depressed nasal bridge, Large fontanelles, Wide nose, Short no... OMIM:613320
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormality of tibial epiphyses, Double-layered patella, Retinal t... ORPHA:166011
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Genu varum, Tibial bowing, Enlargement of the wrists, Abnormal sacroilia... ORPHA:289176
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Hypertension, Abnormality of the orbital region, Brachycephaly, Osteolysis inv... ORPHA:371428
Osteoglophonic Dysplasia
Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Short nose, Malar flattening, Anteverted nar... OMIM:166250
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Optic atrophy, Micrognathia, Convex nasal rid... OMIM:216550
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Depressed nasal bridge, Camptodactyly of 2nd-5t... OMIM:206920
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Wide nose, Abnormality of cartilage of e... ORPHA:2399
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Thin long bone diaphyses, Small hand, ... ORPHA:93324
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... OMIM:239100
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Ptosis, Short nose, Epicanthus, Anteverted nares, Midface r... OMIM:614744
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Geroderma Osteodysplasticum
Tibial bowing, Mandibular prognathia, Increased susceptibility to fractures, Osteoporosis, Malar ... OMIM:231070
Simpson-Golabi-Behmel Syndrome, Type 2
Pneumonia, Short finger, Tapered finger, Wide nose, Short nose, Epicanthus, Congenital hip disloc... OMIM:300209
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... OMIM:601457
Cole-Carpenter Syndrome 2
Wormian bones, Downslanted palpebral fissures, Osteopenia, Narrow iliac wing, Frontal bossing, Tu... OMIM:616294
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Depressed nasal bri... ORPHA:95717
Felty Syndrome
Sinusitis, Pericarditis, Abnormal joint morphology, Synovitis, Neutropenia, Rhinitis, Chronic oti... ORPHA:47612
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Small epiphyses, Broad nasal tip, Depressed nasal bridge, Optic disc pallor, Short finger, Metaph... OMIM:300232
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent lacrimal punctum, Microretrognathia, Ptosis, Telecanthus, Absent ey... ORPHA:228396
Lenz-Majewski Hyperostotic Dwarfism
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Abnormal dental enamel morp... ORPHA:2658
Distal Trisomy 5Q
Carious teeth, Micrognathia, Eczema, Chorioretinal coloboma, Craniosynostosis, Epicanthus, Downsl... ORPHA:96097
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Wormian bones, Multiple prenatal fractures, Platybasia, Bowing ... OMIM:259410
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Thickened calvaria, Midface retrusion, Depressed nasal bridge, Upslanted palpebral ... OMIM:616331
Frank-Ter Haar Syndrome
Camptodactyly, Anteverted nares, Delayed cranial suture closure, Short phalanx of finger, Short l... OMIM:249420
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... OMIM:307800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, Tapered finger, Upslanted palpebral fissure, Short nose, Downsl... OMIM:617061
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... OMIM:300554
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Small epiphyses, Knee dislocation, Microretrognathia, Hip contracture, Micrognathi... OMIM:618363
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Metaphyseal Acroscyphodysplasia
Genu varum, Telecanthus, Malar flattening, Short toe, Short humerus, Anteverted nares, Short phal... OMIM:250215
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Midface retrusion, Brachycephaly, A... ORPHA:93258
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Ptosis, Short nose, Epicanthus, Downslanted palpebral fissures, Wide na... OMIM:613603
Aarskog-Scott Syndrome
Ptosis, Abnormal vertebral segmentation and fusion, Small hand, Epicanthus, Genu recurvatum, Fing... ORPHA:915
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Severe varicella zoster infection, Thyroid carcinoma, Re... ORPHA:331235
Bruck Syndrome 2
Increased susceptibility to fractures, Wormian bones, Knee flexion contracture, Osteopenia, Flexi... OMIM:609220
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Congenita... ORPHA:313855
Saethre-Chotzen Syndrome
Plagiocephaly, Hallux valgus, Optic atrophy, Convex nasal ridge, Triphalangeal thumb, Depressed n... ORPHA:794
Autosomal Dominant Omodysplasia
Micrognathia, Depressed nasal bridge, Short nose, Malar flattening, Frontal bossing, Short 1st me... ORPHA:93328
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Eczematoid dermatitis, Genu varum, Ptosis, Abnormality of epiphysis morphology, Seborrheic dermat... ORPHA:2796
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Short nose, Fr... OMIM:300863
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Brachycephaly, Tapered finger, Long fingers, Ptosis, Short nose, Wide nasal b... OMIM:218000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Prominent interphalangeal joints, Large tarsal bones, Micrognathia, Midface retrusion, Short long... OMIM:215150
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Saethre-Chotzen Syndrome
Hallux valgus, Malar flattening, Oxycephaly, Syndactyly, Delayed cranial suture closure, Abnormal... OMIM:101400
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Telangiectasia of the skin, Hypoplasia of the radius, A... ORPHA:75508
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Broad nasal tip, Midface retrusion, Short nose, Long eyelashes, Wide nasal bridge, ... OMIM:618529
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Arthralgia of the hip, Hip osteoarthritis, Hip contracture, Abnormality o... ORPHA:99642
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Hypomandibular Faciocranial Dysostosis
Maxillozygomatic hypoplasia, Brachycephaly, Trigonocephaly, Upslanted palpebral fissure, Craniosy... ORPHA:1790
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Osteopenia OMIM:125700
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Fibrochondrogenesis 2
Micrognathia, Metaphyseal widening, Short nose, Malar flattening, Hypoplastic ischia, Hypoplastic... OMIM:614524
Warburg Micro Syndrome 3
Optic atrophy, Micrognathia, Brachycephaly, Short nose, Ankle clonus, Flexion contracture, Clinod... OMIM:614222
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Bruck Syndrome
Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, Wormian bones, Pteryg... ORPHA:2771
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Highly arched eyebrow, Micrognathia, Depressed nasal bridge, Sparse lateral eyebr... ORPHA:261120
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Narrow palpebral fissure, Depressed nasal bridge, Brachycephaly, Optic ner... OMIM:618828
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Telangiectasia of the skin, Arthritis, Skin ... ORPHA:779
Congenital Enterovirus Infection
Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Cardiomyopathy, Meningitis... ORPHA:292
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Otofacioosseous-Gonadal Syndrome
Underdeveloped nasal alae, Depressed nasal bridge, Brachycephaly, Epicanthus, Wormian bones, Down... OMIM:601976
Edinburgh Malformation Syndrome
Micrognathia, Ulnar deviation of finger, Long fingers, Short nose, Slender finger, Frontal bossin... ORPHA:1895
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Ptosis, Craniosynostosis, Turricephaly, Delayed cranial suture clos... OMIM:616602
Cebalid Syndrome
Plagiocephaly, Highly arched eyebrow, Depressed nasal ridge, Depressed nasal bridge, Brachycephal... OMIM:618774
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Curly eyelashes, Malar flattening, Short toe, Anteverted nares, Single interphala... OMIM:611717
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Codas Syndrome
Depressed nasal bridge, Ptosis, Abnormality of epiphysis morphology, Short nose, Epicanthus, Cong... ORPHA:1458
Marshall Syndrome
Micrognathia, Sparse eyelashes, Thickened calvaria, Depressed nasal bridge, Brachycephaly, Vitreo... ORPHA:560
Mohr Syndrome
Metaphyseal irregularity, Telecanthus, Malar flattening, Syndactyly, Hypoplasia of the maxilla, M... OMIM:252100
Legionnaires Disease
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancreatitis, Recurr... ORPHA:549
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Tibial bowing, Broad long bones, Convex nasal ridge, Large fontanelles, ... OMIM:166210
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Generalized joint laxity, Joint dislocation, Abnormality of ulnar metaphysis, Genu valgum, Abnorm... ORPHA:85198
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Mandibular prognathia, Upslanted palpeb... OMIM:617183
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Brachycephaly, Delayed closure of the anterior fontanelle, Ptosis, Optic nerve hypo... OMIM:618736
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Coffin-Siris Syndrome 6
Plagiocephaly, Narrow palpebral fissure, Broad nasal tip, Depressed nasal bridge, Micrognathia, E... OMIM:617808
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Mandibular prognathia, Short nose, Epicanthus, Downslanted palpebral fiss... ORPHA:261144
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Infectious encephalitis, Neoplasm, Melanoma ORPHA:2481
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Macrocephaly-Developmental Delay Syndrome
Narrow palpebral fissure, Mandibular prognathia, Craniosynostosis, Downslanted palpebral fissures... ORPHA:397612
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... ORPHA:93284
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femora... ORPHA:86820
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Depressed nasal bridge, Neutro... OMIM:271510
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Brachycephaly, Abnormal eyelid morphology, Aplasia/Hypoplasia of the nasal... ORPHA:2095
9P13 Microdeletion Syndrome
Highly arched eyebrow, Metopic synostosis, Brachycephaly, Abnormality of cartilage of external ea... ORPHA:324313
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short nose, Abnormality of the opti... ORPHA:363417
14Q24.1Q24.3 Microdeletion Syndrome
Synophrys, Short nose, Dislocated radial head, Downslanted palpebral fissures, Prominent nasal br... ORPHA:401935
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Brachycephaly, Metaphyseal widening,... OMIM:263210
Cdags Syndrome
Short clavicles, Sparse eyelashes, Midface retrusion, Ectropion, Brachycephaly, Ptosis, Sparse an... OMIM:603116
Mulibrey Nanism
Depressed nasal bridge, Hypoplastic frontal sinuses, Wide nose, Thickened cortex of long bones, W... OMIM:253250
Gm1 Gangliosidosis
Ventricular septal defect, Infectious encephalitis, Short stature, Abnormal heart morphology, Car... ORPHA:354
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Telecanthus, Joint contracture of the hand, Genu recurvatum, Camptodactyly, A... OMIM:182212
Martsolf Syndrome 1
Metatarsus adductus, Micrognathia, Broad nasal tip, Slender ulna, Depressed nasal bridge, Brachyc... OMIM:212720
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Mandibular prognathia, Short metatarsal, Short nos... OMIM:614613
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, Hypertrophic cardiomyopathy, Optic atrophy, Upslanted palpebral fiss... OMIM:619383
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Cataract, Epiphyseal stippling OMIM:614876
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Carious teeth, Micrognathia, Flat capi... OMIM:190350
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating antibody level, Palpebral edema, Decreased circulating total IgM, Anteverte... ORPHA:221139
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Micrognathia, Short long bone, Flared elbow metaphyses ORPHA:1423
Rothmund-Thomson Syndrome Type 2
Carious teeth, Genu varum, Neutropenia, Leukemia, Abnormal dental enamel morphology, Delayed erup... ORPHA:221016
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones OMIM:138930
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Midface retrusion, Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
C Syndrome
Toe syndactyly, Micrognathia, Ulnar deviation of finger, Trigonocephaly, Upslanted palpebral fiss... OMIM:211750
Perlman Syndrome
Micrognathia, Ptosis, Short nose, Epicanthus, Wide nasal bridge, Retrognathia, Anteverted nares, ... ORPHA:2849
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Micrognathia, Large fontanelles, Delayed closure of the anterior fontanelle, Abnorm... OMIM:614887
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Telecanthus, Transient ischemic attack, Palpebral edema, Delayed cranial suture ... ORPHA:2995
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Fibrochondrogenesis 1
Broad ischia, Short nose, Malar flattening, Joint contracture of the hand, Camptodactyly, Antever... OMIM:228520
Tenorio Syndrome
Keratoconjunctivitis sicca, Syncope, Pneumonia, Stomatitis, Mandibular prognathia, Wide nose, Tel... OMIM:616260
Lessel-Kreienkamp Syndrome
Plagiocephaly, Upslanted palpebral fissure, Epicanthus, Wide nasal bridge, Pulmonic stenosis, Fro... OMIM:619149
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy... ORPHA:249
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Anteverted nares,... OMIM:101800
Distal Trisomy 18Q
Carious teeth, Micrognathia, Short nose, Arachnodactyly, Prominent nasal bridge, Deviation of fin... ORPHA:1716
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Meningococcal Meningitis
Shock, Infectious encephalitis, Skin rash, Hypotension ORPHA:33475
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality of the peritoneum, Int... ORPHA:26790
Chung-Jansen Syndrome
Micrognathia, Tapered finger, Upslanted palpebral fissure, Short nose, Epicanthus, Joint hypermob... OMIM:617991
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Hodgkin lymphoma, Lymphoproliferative disorder, Recurrent infe... OMIM:615122
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Large fontanelles, Ulnar deviation of finger, Hypoplas... ORPHA:2249
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Brachycephaly, Trigonocephaly, Ptosis, Short nose, Epicanthus, Downslante... ORPHA:363659
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Osteoporosis, Wormian bones, Joint hypermobility, Coxa vara, Coxa valga, Recu... OMIM:619131
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Abnormal hip joint morphology, Delayed proximal femoral epiphysea... ORPHA:93311
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Normocytic anemia, Pneumonia, Avascular necrosis of the capital fem... ORPHA:247691
Whipple Disease
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Myocardial infarction, G... ORPHA:3452
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Flattened femoral head, Irregular epiphyses, Genu varum, Abnormality of femur ... ORPHA:1822
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Short metatarsal, Acromicria, Short toe, Prem... ORPHA:93307
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, Depressed nasal bridge, Polydactyly, Ptosis, Sparse lateral eyebrow, Short nose, Te... ORPHA:314655
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Hip osteoarthritis, Abnormal epiphysis morphology of the phala... OMIM:619248
Bartsocas-Papas Syndrome
Toe syndactyly, Popliteal pterygium, Underdeveloped nasal alae, Micrognathia, Ankyloblepharon, Sh... ORPHA:1234
Widow'S Peak Syndrome
Arthralgia/arthritis, Arthralgia of the hip, Recurrent patellar dislocation, Hip osteoarthritis, ... OMIM:314570
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... ORPHA:2741
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ... ORPHA:1416
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Genu varum, Short greater sciatic notch, Short middle phalanx of finge... ORPHA:93314
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
3Mc Syndrome 2
Highly arched eyebrow, Prominence of the premaxilla, Ptosis, Craniosynostosis, Downslanted palpeb... OMIM:265050
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Carious teeth, Abnormality of the elbow, Short nose, Epicanthus, Pul... ORPHA:2701
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Absent vertebral body mineralization, Retinal d... ORPHA:93296
Peripheral Dysostosis
Joint stiffness, Clinodactyly of the 5th finger, Osteoarthritis, Brachydactyly, Cone-shaped epiph... ORPHA:1795
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Joint hemorrhage, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Epiphyseal dysplasia, Slender finger,... ORPHA:93360
Weill-Marchesani Syndrome 1
Broad metatarsal, Thin bony cortex, Shallow orbits, Depressed nasal bridge, Brachycephaly, Mitral... OMIM:277600
Zika Virus Disease
Infectious encephalitis, Intrauterine growth retardation, Arthritis, Meningitis, Maculopapular ex... ORPHA:448237
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Malar flattening, Broad hallux, Bulbous tips of t... OMIM:304120
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Short nose, Symphalangism affecting the phalanges of the hand, Frontal bossing, Lim... ORPHA:2547
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Upslanted palpebral fissure, Hypoplasia of the maxilla, Brachycephaly ORPHA:93950
Lujan-Fryns Syndrome
Micrognathia, Brachycephaly, Arachnodactyly, Prominent nasal bridge, Brachydactyly, Camptodactyly... ORPHA:776
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Micrognathia, Short nose, Recurrent pneumonia, Camptodactyly of finger ORPHA:1495
Shprintzen-Goldberg Syndrome
Micrognathia, Mitral regurgitation, Ptosis, Bowing of the long bones, Craniosynostosis, Telecanth... ORPHA:2462
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Cutis Laxa, Autosomal Dominant 3
Adducted thumb, Aortic regurgitation, Wormian bones, Osteopenia, Hip dislocation, Delayed cranial... OMIM:616603
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Micrognathia, Short clavicles, Convex nasal ridge, Eruption failure, Wor... OMIM:619322
Cenani-Lenz Syndrome
Short nose, Malar flattening, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger... ORPHA:3258
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Laron Syndrome
Depressed nasal ridge, Micrognathia, Abnormality of the elbow, Delayed eruption of teeth, Aplasia... ORPHA:633