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Gene: Csf1 MGI:1339753

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
colony stimulating factor 1 (macrophage)
Synonyms:
BAP025,  Csfm,  M-CSF,  CSF-1,  colony-stimulating factor-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Csf1 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 Csf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Avascular necrosis, Multiple bony cystic lesions, Atrophy of alveolar ridges... ORPHA:83451
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Diaphyseal sclerosis, Rec... OMIM:259710
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Pancytopenia, Incr... OMIM:259700
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology,... OMIM:607634
Osteochondrosis Of The Metatarsal Bone
Osteochondrosis, Avascular necrosis, Flattened metatarsal heads, Abnormality of the third metatar... ORPHA:564003
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo... ORPHA:53697
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality... ORPHA:210110
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Growth dela... OMIM:611490
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Tooth agenesis, Multiple unerupted teeth, Delayed skeleta... ORPHA:2645
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma... OMIM:265900
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retrognathia, Retractile testis, Male hypogonadism, Hyp... ORPHA:163976
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Mandibular p... ORPHA:3416
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Short stature, S... ORPHA:2204
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... OMIM:612840
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Short stature, Dentinogenesis imperfecta... ORPHA:71267
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Avascular ne... ORPHA:53
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Osteopetrosis, Anemia, Increased bone mineral density, Cortical scl... OMIM:620366
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Osteoporosis, Fem... OMIM:300604
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Multiple prenatal fractures, Severe short stature, Dentinogenesis imperfe... OMIM:301014
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Monosomy 5P
Finger syndactyly, Abnormality of bone mineral density, High palate, Intrauterine growth retardat... ORPHA:281
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Abnormality of the dentition, Osteoporosis OMIM:615269
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg... OMIM:259730
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Long philtrum, Cranial hyperostosis, Pancytopenia, Increased bone mineral density, ... OMIM:259720
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Narrow mouth, Sh... OMIM:619322
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Spina bifida oc... ORPHA:2780
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hypocalcemic Vitamin D-Dependent Rickets
Femoral bowing, Tibial bowing, Splenomegaly, Genu varum, Rickets, Short stature, Failure to thriv... ORPHA:289157
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog... ORPHA:163971
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Female hypogo... ORPHA:52901
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Ck Syndrome
Retrognathia, Abnormal cortical bone morphology, Dental crowding, High palate, Abnormal digit mor... OMIM:300831
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Odontochondrodysplasia 1
Mesomelic short stature, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Cone-sh... OMIM:184260
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Hypocalcemia, Meta... OMIM:619073
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Short stature, Growth delay, Splenomegaly, Intrauterine growth retar... OMIM:618541
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Delayed eruption of teeth... OMIM:619489
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei... OMIM:617306
Familial Expansile Osteolysis
Fragile teeth, Bone pain, Premature loss of teeth, Bowing of the long bones, Osteolysis, Patholog... OMIM:174810
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Decreased skull ossific... ORPHA:2097
Desmosterolosis
Retrognathia, Osteopetrosis, Increased bone mineral density, Narrow mouth, Metatarsus adductus, F... ORPHA:35107
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:277440
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D... OMIM:615198
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Decreased calvarial ossification, Multiple prenatal fr... OMIM:259440
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Long phi... OMIM:166250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Contracture of the proximal interphalangeal joi... OMIM:130060
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Avascular necrosis, Knee osteoarthritis, Arthritis, Abnormality ... ORPHA:566943
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Abn... ORPHA:2501
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Diaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase... OMIM:614727
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Gorham-Stout Disease
Osteopenia, Mandibular pain, Abnormal bone ossification, Abnormal ethmoid bone morphology, Abnorm... ORPHA:73
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph... ORPHA:2769
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Trichodentoosseous Syndrome
Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly... ORPHA:667
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:264700
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Mccune-Albright Syndrome
Ovarian cyst, Hypophosphatemia, Monostotic fibrous dysplasia, Polyostotic fibrous dysplasia, Abno... ORPHA:562
Chromosome Xq27.3-Q28 Duplication Syndrome
Thin vermilion border, Decreased testicular size, Sparse body hair, Hypogonadism, Abdominal obesi... OMIM:300869
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Hypocalcemia, Bone cyst, Abnormal bone structure, Ab... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Elevated circulating parathyroid hormone level, Hypophosphate... OMIM:307800
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Postnatal growth retardation, Mandibular prognathia, 2-3 toe syndactyly, Delayed skel... ORPHA:2324
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Bone pain, Cachexia,... ORPHA:77297
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Growth delay, Abnormal trabecular bone morph... OMIM:612301
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
49,Xxxyy Syndrome
External genital hypoplasia, Mandibular prognathia, Abnormality of the testis size, Decreased tes... ORPHA:261534
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Wide distal fem... OMIM:614856
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Splenomegaly, Recurrent fr... OMIM:618107
Pycnodysostosis
Disproportionate short-limb short stature, Hypoplastic iliac wing, Joint hypermobility, Intrauter... ORPHA:763
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Pancytopenia, Tooth malp... ORPHA:2785
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Broad metacarpals, Generalized osteoporosis, Osteolysis i... OMIM:277950
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Impulsivity, Decreased ... ORPHA:99330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens... OMIM:136300
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Delayed skeletal maturation, Bifid uvula, Wide mouth, Symphalangism a... ORPHA:2658
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema... OMIM:146300
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Erectile dysfunction, Arthritis, Decreased libido, Infertility, ... ORPHA:465508
Rothmund-Thomson Syndrome
Aplastic anemia, Reduced bone mineral density, Microdontia, Neutropenia, Hypoplasia of the ulna, ... ORPHA:2909
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Short stature, Hypophosphatemia,... OMIM:193100
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Genu valgum, Truncal obesity, Broad femoral head, Short... OMIM:620639
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Abnormal number of incisors, Osteoporosis, Bilateral talipes e... ORPHA:2958
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the wrists... OMIM:600081
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor... ORPHA:2410
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Growth delay, Hypophosphatemia, Ost... ORPHA:89937
Forsythe-Wakeling Syndrome
Decreased body weight, Osteoporosis, Growth delay, Short stature, Thrombocytopenia OMIM:613606
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Abnormality of the dentition, Bowing of the long bones, S... ORPHA:436
Prieto Syndrome
Retrognathia, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Abnormality of t... OMIM:309610
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Bone pain, Leuk... ORPHA:37748
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Broad jaw ORPHA:178377
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Delayed puberty, Osteoporosis OMIM:615271
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Increased skull ossification, Tented u... OMIM:618476
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename... OMIM:612463
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Reduced bone mineral density, Joint stiffness, Short ... OMIM:620210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl... OMIM:612350
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Tooth agenesis, Accelerated skeletal maturation, Joint hypermobility, Coxa valga... OMIM:618363
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ... OMIM:103580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia, ... OMIM:615285
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Conical tooth, Osteoporosis, Short stature, Hypothyroidism, Male... OMIM:618625
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, High pa... OMIM:616294
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Sinusitis, Failure to thrive, Neutrophilia, Thrombocytopenia... OMIM:226990
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Thin upper lip vermilion, Short stature ORPHA:2512
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo... OMIM:234250
Panhypophysitis
Polydipsia, Normochromic anemia, Impotence, Abnormal posterior pituitary morphogenesis, Decreased... ORPHA:95513
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr... ORPHA:397685
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph... ORPHA:1133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal o... OMIM:241530
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Hepatomegaly, Gingival overgrowth, Narrow mouth, Protruding tongue, Joint... OMIM:230600
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... ORPHA:98850
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Abnormality of the dentition, Osteoporosis,... OMIM:259450
Gaucher Disease Type 1
Delayed puberty, Delayed skeletal maturation, Leukopenia, Splenomegaly, Erlenmeyer flask deformit... ORPHA:77259
Dysosteosclerosis
Broad femoral neck, Absent paranasal sinuses, Clavicular sclerosis, Abnormal metaphyseal trabecul... OMIM:224300
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdo... ORPHA:221016
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight ... ORPHA:100024
Osteogenesis Imperfecta, Type Xi
Osteopenia, Coxa vara, Short stature, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hyper... OMIM:610968
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis... ORPHA:486
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... ORPHA:1782
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Hyaline Fibromatosis Syndrome
Osteopenia, Gingival fibromatosis, Gingival overgrowth, Osteoporosis, Failure to thrive, Flexion ... OMIM:228600
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hypermobility, Short distal phalanx of finger, Brachydactyly, Osteoporosis ORPHA:2787
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypoplastic ischia, Coro... ORPHA:313855
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ... ORPHA:137834
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Short... OMIM:122860
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ... ORPHA:93308
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth... ORPHA:289176
Adenohypophysitis
Reduced circulating prolactin concentration, Normochromic anemia, Decreased male libido, Pituitar... ORPHA:95512
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Delayed skeletal maturation, Genu... ORPHA:221008
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm... ORPHA:3409
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Lowry-Maclean Syndrome
Intrauterine growth retardation, Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Recurrent fractures, Increased spinal bone density ORPHA:329475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Short stature, Adrenocortical h... ORPHA:408
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ... ORPHA:2788
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Short stature, M... OMIM:112240
Juvenile Paget Disease
Cranial hyperostosis, Abnormality of the dentition, Osteoporosis, Bowing of the long bones, Short... ORPHA:2801
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalanges of finger, De... OMIM:620545
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Hypophosphatemic Bone Disease
Rickets, Short stature, Hypophosphatemia, Osteomalacia, Bowing of the legs OMIM:146350
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Accelerated skeletal maturation, Micrognathia, Generali... ORPHA:1423
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol... OMIM:252100
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t... OMIM:190351
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased... OMIM:614592
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Arthralgia of the hip, Multiple bony cystic lesions, Knee pai... ORPHA:314652
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Tooth malposition, Metaphyseal cu... OMIM:156400
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Delayed skeletal maturation, Short stat... OMIM:616943
Mogs-Cdg
Sensorineural hearing impairment, Inappropriate antidiuretic hormone secretion, Left ventricular ... ORPHA:79330
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration, Pseudobulbar paralysis ORPHA:101006
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption of teeth, Severe p... ORPHA:73272
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Osteogenesis Imperfecta, Type Viii
Osteopenia, Disproportionate short-limb short stature, Slender long bone, Femoral retroversion, W... OMIM:610915
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Elevated circulating parathyroid hormone level, Disproportionate short-limb short sta... OMIM:618618
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Hypophosphatasia, Infantile
Anemia, Unossified vertebral bodies, Disproportionate short-limb short stature, Metaphyseal cuppi... OMIM:241500
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Abnormal leukocyte mor... ORPHA:1426
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Short sta... OMIM:166220
Marshall-Smith Syndrome
Retrognathia, Reduced bone mineral density, Slender long bone, Gingival overgrowth, Bowing of the... ORPHA:561
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati... ORPHA:1525
Camurati-Engelmann Disease
Limb pain, Delayed puberty, Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral den... OMIM:131300
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me... ORPHA:1452
Infantile Systemic Hyalinosis
Osteopenia, Gingival overgrowth, Osteoporosis, Abnormal dental morphology, Joint stiffness, Campt... ORPHA:2176
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Craniofacial oste... ORPHA:1328
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Desbuquois Dysplasia 1
Disproportionate short-limb short stature, Sandal gap, Broad femoral neck, Bifid distal phalanx o... OMIM:251450
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome... ORPHA:231222
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Neonatal short-limb short stature, Proximal placeme... ORPHA:628
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Osteoporosis, Short stature, Primary amenorrhea, Joint hyperm... OMIM:616033
Achondrogenesis Type 1A
Short foot, Abnormal enchondral ossification, Short palm, Micrognathia, Severe short stature, Lon... ORPHA:93299
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Warburg Micro Syndrome 1
Thin vermilion border, Narrow mouth, Osteoporosis, Short stature, Failure to thrive, Micrognathia... OMIM:600118
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Short stature, Recurrent fractures, Increased susceptibility to fract... OMIM:615066
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... OMIM:616507
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, Wide anterior... OMIM:269300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of... OMIM:619269
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption... OMIM:214150
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Dec... OMIM:613848
Woodhouse-Sakati Syndrome
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Premature ova... ORPHA:3464
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Bone pain, Ectopic ossification in muscl... ORPHA:2485
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Bone marr... OMIM:231095
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin... ORPHA:94089
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Type II diabetes mel... OMIM:610947
Perrault Syndrome 1
High palate, Osteoporosis, Short stature, Primary amenorrhea, Increased circulating gonadotropin ... OMIM:233400
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Severe sh... OMIM:112350
Aarskog-Scott Syndrome
Delayed puberty, Hypodontia, Hyperextensibility of the finger joints, Bilateral cryptorchidism, D... OMIM:305400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Chole... OMIM:614886
Linear Verrucous Nevus Syndrome
Toe syndactyly, Short metacarpal, Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro... ORPHA:93351
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Osteoporosis, Carious teeth, Severe short stature, Recurrent fractures OMIM:126550
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Abnormality of the dentition, Osteoporosis, Absence of pubertal development, Hypogona... OMIM:615267
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal cortical bone morphology, Avascular necrosis, Bone pain, Arthritis... ORPHA:2796
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ... ORPHA:93315
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Delayed eruption of teeth, Abnormality of the dentition, Gingivitis, Eosinophilia, Cl... ORPHA:2314
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Pycnodysostosis
Narrow palate, Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteoly... OMIM:265800
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Calvarial hyperostosis, Short stature, Pathologic fracture, Hepati... ORPHA:52430
Ruvalcaba Syndrome
Delayed puberty, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral ... ORPHA:3121
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Impotence, Osteopo... ORPHA:79230
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen... ORPHA:369
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the ... ORPHA:63442
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Abnormal dental morphology, ... ORPHA:319195
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Generali... ORPHA:99879
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Decreased growth hormone responses to growth hormone-r... OMIM:101800
Paget Disease Of Bone 2, Early-Onset
Bone pain, Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Femo... OMIM:602080
Raine Syndrome
Subperiosteal bone formation, Microdontia, Wide mouth, Hypophosphatemia, Increased bone mineral d... OMIM:259775
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t... ORPHA:420561
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Small for gestational age, Angulated humerus, Short long bone, Bowing of ... OMIM:616229
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Postnatal growth retardation, Elbow flexion contracture, Abnormality of the dentition... OMIM:612394
Trichorhinophalangeal Syndrome, Type I
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Delay... OMIM:190350
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Osteoporosis
Osteoporosis OMIM:166710
Mycetoma
Bone cyst, Abnormal appendicular skeleton morphology, Abnormal bone structure, Abnormality of the... ORPHA:2583
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Weight loss, Pathologic f... ORPHA:668
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Failure to thrive, Sp... ORPHA:79301
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Flared metaphysis, Dysplasia of the femoral head, Long upper lip, Decreased body weig... OMIM:615349
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Hypoplastic pel... ORPHA:750
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger... OMIM:166200
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Narrow mouth, Camptodactyly, Osteoporo... OMIM:616006
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Thin vermilion border, Decreased response to growth hormone stimula... OMIM:241410
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Cystinosis
Rickets, Delayed puberty, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Short... ORPHA:213
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exa... ORPHA:364577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Finger joint contracture, Osteoporosis, Short stature, Micrognathia, ... ORPHA:48431
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, High palate, Abnormalit... ORPHA:576283
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... ORPHA:163649
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodactyly, Upper l... ORPHA:2804
Geroderma Osteodysplastica
Abnormal bone ossification, Mandibular prognathia, Abnormal epiphysis morphology, Osteoporosis, G... ORPHA:2078
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Abno... ORPHA:811
Gracile Bone Dysplasia
Flared metaphysis, Slender long bone, Decreased skull ossification, Ankyloglossia, Asplenia, Shor... OMIM:602361
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Squared iliac bones, Accelerated skeletal maturation, Micrognathia, Advanced t... OMIM:215045
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Accelerated skeletal maturation, Cone-shaped epiphys... ORPHA:950
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti... ORPHA:3238
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Genu valgum, Small pituitary gland, Osteoporosis, Decreased testicular size, Cleft pa... OMIM:614880
Xq12-Q13.3 Duplication Syndrome
Hypsarrhythmia, 2-3 toe syndactyly, Cleft earlobe, Abnormality of visual evoked potentials, Short... ORPHA:314389
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Delayed skeletal maturation, Short... OMIM:619638
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Postnatal growth retardation, Genu valgum, Anemia, Metaphyseal sclerosis, Bowing of t... OMIM:612199
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... ORPHA:1798
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... ORPHA:251028
Mulibrey Nanism
Hepatomegaly, Absent frontal sinuses, Dental crowding, Hypodontia, Hypoplastic frontal sinuses, S... OMIM:253250
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... ORPHA:2741
Singleton-Merten Syndrome 1
Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val... OMIM:182250
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font... OMIM:620099
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Abnormality of the dentition, Bowing of the long bones, Generalized osteoporosis,... OMIM:617952
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hear... OMIM:245200
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, H... OMIM:611174
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Femoral bowi... OMIM:300009
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Hypospadias, A... ORPHA:1772
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Decreased testicular size, Failure to thrive, Splenomegaly, Hypogonadism, Decr... OMIM:201100
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Thrombocytopenia, Deep philtrum ORPHA:1237
Momo Syndrome
Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Delayed eruptio... ORPHA:2563
Sanjad-Sakati Syndrome
Postnatal growth retardation, Thin vermilion border, Hypoparathyroidism, Congenital hypoparathyro... ORPHA:2323
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Recurrent aphthous stomatitis, Lymph... OMIM:301078
Cockayne Syndrome B
Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplastic ilia... OMIM:133540
Cockayne Syndrome A
Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplastic ilia... OMIM:216400
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Hepatomegaly, Short stature, Splenomegaly, Recurrent fractures ORPHA:417
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, A... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, A... ORPHA:168558
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Disproportiona... OMIM:222600
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Short stature, Flexion contracture, Knee f... OMIM:609220
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Cutaneous abscess, Persistence of primary teeth, Lymphopenia, J... OMIM:619752
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Bone Marrow Failure Syndrome 3
Aplastic anemia, Reduced bone mineral density, Hyperechogenic pancreas, Microdontia, Bone marrow ... OMIM:617052
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... ORPHA:666
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Mandibular prognathia, Osteoporosis OMIM:619971
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced bone minera... ORPHA:2235
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos... OMIM:201000
Geroderma Osteodysplasticum
Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Femora... OMIM:231070
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Micromelia, Short 3rd metacarpa... OMIM:118651
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Hypoplastic ilia, S... ORPHA:93296
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormality of the endocrine system, Absent eyel... ORPHA:166035
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Decreased skull ossific... OMIM:215140
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Short stature,... OMIM:612089
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased skull ossification, Multiple prenatal fractures, Decreas... OMIM:616897
Craniometaphyseal Dysplasia, Autosomal Recessive
Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial... OMIM:218400
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Optic Atrophy 5
Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor OMIM:610708
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Jaundice, Hepatomegaly, Calvarial hyperostosis, Anemia of inadequate production, Cari... OMIM:612714
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Reduced bone mineral density, ... ORPHA:2370
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Short stature, Hypophosphate... OMIM:613388
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Elbow flexion contracture, High p... OMIM:616809
Roifman Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Lymphadenopathy, Broad femoral head... ORPHA:353298
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Microd... OMIM:619718
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Acrootoocular Syndrome
Sandal gap, Short metacarpal, Small thenar eminence, Prominent calcaneus, Palmar hyperkeratosis, ... ORPHA:2980
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,... ORPHA:2063
Bloom Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased fertility in females, Azo... OMIM:210900
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo... ORPHA:740
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi... ORPHA:91349
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Delayed eruption of teeth, Increased body weight, Congenital hip dislocation, Growth dela... OMIM:614450
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Decreased testicular size, Clinodactyly, Cleft palate, Cleft lip, Hypogonadotropic ... OMIM:614838
12Q14 Microdeletion Syndrome
Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilosis, Short stature, Failure to... ORPHA:94063
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovar... ORPHA:95699
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Delayed puberty, Supernumerary tooth, Limitation of joint mobility, Nephrogenic diabetes insipidu... ORPHA:3145
Fanconi-Bickel Syndrome
Rickets, Hypertriglyceridemia, Osteopenia, Hepatomegaly, Increased hepatic glycogen content, Hepa... ORPHA:2088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal bone ossification, Abnormal femur... ORPHA:1263
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... ORPHA:824
Dyskeratosis Congenita
Neoplasm of the pancreas, Bone marrow hypocellularity, Splenomegaly, Intrauterine growth retardat... ORPHA:1775
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,... ORPHA:536467
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... ORPHA:93346
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhi... OMIM:614078
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Anemia, Calvarial osteosclerosis, Decreased skull ossification, Thi... ORPHA:93325
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hypoparathyroidism, Abnormality of the medullary cavity of th... OMIM:127000
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Sensorineural hearing impairment, Low-set ears, Abnormality of visual evoked poten... ORPHA:2971
Maffucci Syndrome
Bone pain, Short stature, Growth delay, Multiple enchondromatosis, Recurrent fractures, Osteolysis ORPHA:163634
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased B ce... ORPHA:98813
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Moderat... OMIM:113300
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bones, Coxa valga,... OMIM:255800
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
H Syndrome
Delayed puberty, Lymphadenopathy, Recurrent fractures, Gingival overgrowth, Camptodactyly, Short ... ORPHA:168569
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate... ORPHA:79444
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Delayed puberty, Osteoporosis OMIM:615270
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 toe syndactyly, High palat... ORPHA:476126
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Delayed skeletal maturation, Severe short stature... ORPHA:2643
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hepatocellular adenoma, Chronic neutropenia, Hepatic steatosis, Hepatocellular c... ORPHA:79259
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Per... OMIM:618849
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, EEG abnormality, Hearing impairment ORPHA:141
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol... ORPHA:8
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Cranial hyperostosis, Carious t... ORPHA:2710
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr... OMIM:259410
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Abnormality of pattern visual evoked potentials ORPHA:357225
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finger morphology, Ab... OMIM:163200
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Premature loss of teeth, Bowing of the long bones, Os... OMIM:239000
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholesta... OMIM:619377
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Knee ... ORPHA:3206
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Osteoporosis ORPHA:2786
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Talipes equinovarus, Single transverse palmar crease, High pala... OMIM:619743
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Rocker bottom foot, High palate, Congenital hip dislocation, Multiple prenatal fractu... OMIM:271225
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Decreased nerve conduc... ORPHA:1933
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Coxa v... OMIM:610682
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Short ... OMIM:618392
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Sensorineural hearing impairment, Abnormality of neutrophils ORPHA:2690
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Short long bone, Glossoptosis, Short stature, Cleft palate, Pierre... OMIM:620269
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit... ORPHA:534
Astley-Kendall Dysplasia
Micromelia, Disproportionate short-limb short stature, Epiphyseal stippling ORPHA:85175
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Short stature, Failure to thrive, Hepatosplenomegaly, Decreased mean co... OMIM:611590
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... OMIM:609465
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... OMIM:300244
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Long philtrum, Impacted tooth, Agen... OMIM:211380
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Single ... OMIM:272440
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Calvarial osteosclerosis, Decreased skull ossification, Thin long b... ORPHA:93324
Porphyria, Congenital Erythropoietic
Osteopenia, Erythrodontia, Jaundice, Hepatomegaly, Cholelithiasis, Short stature, Thrombocytopeni... OMIM:263700
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ... ORPHA:2325
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Bruck Syndrome
Bowing of the long bones, Osteoporosis, Joint stiffness, Short stature, Arthrogryposis multiplex ... ORPHA:2771
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Jaundice, Reduced bone mineral density, Hepatom... ORPHA:79239
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Short stature, Metaphyseal dy... OMIM:617974
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Nestor-Guillermo Progeria Syndrome
Thin vermilion border, Limited elbow movement, Progressive clavicular acroosteolysis, Dental malo... OMIM:614008
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Decreased skull ossification, Splenomegaly, Long philtru... ORPHA:955
Gaucher Disease Type 3
Delayed puberty, Hepatomegaly, Anemia, Avascular necrosis, Pancytopenia, Increased bone mineral d... ORPHA:77261
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Single transverse palmar crease, Cryptorchidism, Agenesis... OMIM:616788
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Decreased... ORPHA:50814
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Short nose, Single transverse palmar crease, Abnor... ORPHA:2409
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Cryptorchidism, Decreased testicular size, Absence of pubertal development, Obesity... OMIM:610628
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Osteoporosis, Shor... OMIM:257200
Ruijs-Aalfs Syndrome
Single transverse palmar crease, Elbow flexion contracture, Hepatocellular carcinoma, Decreased b... OMIM:616200
Trichorhinophalangeal Syndrome Type 2
Bilateral single transverse palmar creases, Long philtrum, Abnormal palate morphology, Supernumer... ORPHA:502
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal auditory... OMIM:125250
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor OMIM:616390
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, EEG with burst suppression OMIM:609304
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Hypocalcemia, Tibial bowing, Hypophosphate... ORPHA:352540
Sponastrime Dysplasia
Disproportionate short-limb short stature, Short long bone, Short dental root, Microdontia, Metap... ORPHA:93357
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ... OMIM:166210
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Osteoporosis,... OMIM:235200
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, 2-3 toe syndactyly, Tapered finger, Hear... ORPHA:284180
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hypermobility, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Osteoporosis OMIM:618234
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Acute hepatic failure, Spleno... ORPHA:882
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Cholestasis, Short stature, F... ORPHA:172
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Mandibular prognathia, Decreased testicular size, Eunuchoid habitus, Hypoplasia o... ORPHA:3044
Cantu Syndrome
Large for gestational age, Thick lower lip vermilion, Short hallux, Gingival overgrowth, Osteopor... OMIM:239850
Warburg Micro Syndrome 2
Postnatal growth retardation, Optic atrophy, Undetectable visual evoked potentials, Polymicrogyri... OMIM:614225
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating thyroglobuli... ORPHA:95716
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with spike-wave complexes, Abnormal amplitude of flash visual evoked potentials, EEG with gen... ORPHA:168491
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Decreased calvarial o... ORPHA:2772
Rothmund-Thomson Syndrome, Type 2
Microdontia, Agenesis of permanent teeth, Hypogonadism, Osteoporosis, Short stature, Short palm, ... OMIM:268400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hepatomegaly, Hypouricemia, Short stature, Hypophosphatemia, ... OMIM:616026
Osteogenesis Imperfecta, Type Xxi
Disproportionate short-limb short stature, Osteoporosis, Coxa vara, Bowing of the arm, Joint hype... OMIM:619131
Sialidosis Type 2
Hepatomegaly, Osteoporosis, Short stature, Splenomegaly, Flexion contracture ORPHA:87876
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Undetectable electroretinogram, Abnormality of pattern visual evoked potentials, EEG with abnorma... ORPHA:1947
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Male hypogonadism, Dental crowding, Narrow mouth, Osteoporosi... OMIM:615381
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Trisomy 9P
Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c... ORPHA:236
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Micro Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoplastic labia minora, ... ORPHA:2510
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Short stature, Hypophosphatemia, Osteomalacia OMIM:134600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thromb... OMIM:617021
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Zimmermann-Laband Syndrome
Supernumerary tooth, Hepatomegaly, Deep palmar crease, Gingival fibromatosis, Anterior open-bite ... ORPHA:3473
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Hyperplasia of the maxilla, Large for gestational age, Slender long bone... OMIM:612731
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese... ORPHA:2239
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Abnormality of the endocrine system, Hyperostosis frontalis interna, Osteoporosis,... ORPHA:77296
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Shor... ORPHA:949
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso... OMIM:249710
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Perrault Syndrome 4
Premature ovarian insufficiency, Cubitus valgus, Hypoplasia of the ovary, Secondary amenorrhea, O... OMIM:615300
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Polymicrogyria, Pachygyria OMIM:260565
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Proportionate ... OMIM:244460
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mea... ORPHA:2169
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, Mandibular progn... OMIM:309583
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Postnatal growth retardation, Iron deficiency anemia, Macrocytic anemia... OMIM:212750
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Brittle Cornea Syndrome
Abnormality of the dentition, Camptodactyly, Osteoporosis, Abnormal epiphysis morphology, Arachno... ORPHA:90354
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Coffin-Lowry Syndrome
Everted lower lip vermilion, Short metacarpal, Delayed skeletal maturation, Wide mouth, Short dis... ORPHA:192
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Delayed puberty, Anemia, Delayed eruption of te... ORPHA:330015
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomegaly, Bullet-shaped... OMIM:252500
Hypochondroplasia
Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long... OMIM:146000
Gapo Syndrome
High, narrow palate, Hepatomegaly, Thick lower lip vermilion, Wide anterior fontanel, Eruption fa... OMIM:230740
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Decreased response to growth hormone stimulation test, Reduced circ... ORPHA:79443
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Lymphangioma, Recurrent fractures ORPHA:137608
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
46,Xx Gonadal Dysgenesis
Osteopenia, Abnormality of secondary sexual hair, Premature ovarian insufficiency, Reduced bone m... ORPHA:243
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Slender long bone, Narrow philtru... OMIM:601812
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Splenomegal... OMIM:616354
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Primary hyperpa... OMIM:239200
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Episodic hemolytic anemia, Short stature, Obe... ORPHA:251004
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Primary hypothyroidism, Hypophosphatemia, Dysphagia, Splenomegaly, R... OMIM:219800
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Clubbing, Decreased body weight, Abnormal lymphocyte co... OMIM:615468
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Gliosis, Hearing impairment, Abnormality of v... OMIM:256600
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Wrist flexion contracture, Macrotia, Obesity, Flexion contracture, Male hypogon... OMIM:300055
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Abnormal hair morphology, Oligozoospermia, Precocious puberty, Macr... ORPHA:3000
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concen... ORPHA:79303
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia OMIM:618913
Achondrogenesis
Short nose, Abnormality of bone mineral density, Abnormal enchondral ossification, Micromelia, Mi... ORPHA:932
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Aspartylglucosaminuria
Hepatomegaly, Abnormal cortical bone morphology, Arthritis, Gingival overgrowth, Mandibular progn... ORPHA:93
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Bowed humerus, Short ... OMIM:272460
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Anemia, Hyperostosis, Arthritis, Bone pain, Abnormal sacroiliac j... ORPHA:324964
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Achondrogenesis Type 1B
Short nose, Disproportionate short stature, Abnormal enchondral ossification, Micromelia, Microgn... ORPHA:93298
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating thyroglobulin concentration, Attention defic... OMIM:188570
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Right aortic arch, Female infertility OMIM:617577
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Splenic cyst, Fractured rib, Femoral bowing, Short long... OMIM:618188
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Mild neurosensory hearing impairment, Abnormality of visual evoked potentials, Tin... OMIM:601152
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdontia, Generalized osteoporosis, D... OMIM:245600
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Craniolenticulosutural Dysplasia
Osteopenia, Delayed eruption of teeth, Wide anterior fontanel, Narrow iliac wing, High palate, Sh... OMIM:607812
Congenital Disorder Of Glycosylation, Type Iig
Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intrauterine growth retardation... OMIM:611209
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Osteoporosis, Short stature, Delayed skelet... OMIM:222700
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ... OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dental crowding, Intrauterine growth retardation, Long philtrum, Short finger, 2-3 toe cutaneous ... OMIM:300998
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Macs Syndrome
Long philtrum, Recurrent aphthous stomatitis, Single transverse palmar crease, Gingival overgrowt... OMIM:613075
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Fanconi-Bickel Syndrome
Rickets, Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Increased serum bi... OMIM:227810
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Single transverse palmar crease, Osteoporosis, Elevated circulating phytanic acid c... OMIM:266510
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Delaye... ORPHA:226313
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Gaucher Disease
Delayed puberty, Joint stiffness, Delayed skeletal maturation, Leukopenia, Splenomegaly, Patholog... ORPHA:355
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Dubowitz Syndrome
Sandal gap, Broad thumb, Delayed skeletal maturation, Wide mouth, Abnormality of thumb phalanx, J... ORPHA:235
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Epiphyseal stippling, Limitation of joint mobility, A... ORPHA:177
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia, Sensorineural hearing impairment, Optic nerve ... OMIM:616364
Mirage Syndrome
Rocker bottom foot, Anemia, Radial club hand, Patent ductus arteriosus, Decreased body weight, Sh... OMIM:617053
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Flared metaphysis, Increased bone mineral density,... ORPHA:50945
Mucopolysaccharidosis, Type Iva
Grayish enamel, Hepatomegaly, Widely spaced teeth, Genu valgum, Mandibular prognathia, Osteoporos... OMIM:253000
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Hepatomegaly, Widely spaced teeth, Genu valgum, Mandibular prognathia, Osteoporos... OMIM:253010
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Lymphadenopathy, Short philtrum, Delayed eruption of teeth, Fi... ORPHA:2136
Cohen Syndrome
Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Leukopenia, Joint hypermobili... OMIM:216550
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Retrognathia, Short nose, High palate, Short stature, Failure to thrive, Hypothyroidi... OMIM:618005
Weill-Marchesani Syndrome 1
Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa... OMIM:277600
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal metacarpal m... ORPHA:1350
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hirsutism, Hepatosplenomegaly, Splenomegaly, Primary amenorrh... OMIM:612526
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Frank-Ter Haar Syndrome
Broad alveolar ridges, Short long bone, Wide mouth, Osteoporosis, Camptodactyly, Short palm, Shor... OMIM:249420
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Mandibular pain, Thyroid carcinoma, Elevated circulating parathyroid hormone level, P... ORPHA:99880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Arachnodactyly, Accelerated skeletal maturation, Bifid uvula, Joint hyper... OMIM:130070
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Agitation, Increased serum testosterone level, Decreased circulating ACTH concentrati... OMIM:610489
Luscan-Lumish Syndrome
High anterior hairline, Irregular menstruation, Mandibular prognathia, Hirsutism, Polyphagia, Exc... OMIM:616831
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Gapo Syndrome
Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Mandibular... ORPHA:2067
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Osteoporosis, Eunuchoid habitus, Elevat... OMIM:618187
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hyperhomocystinemia, Dental crowding, Limitation of joint mobility, High palate, Os... OMIM:236200
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pitu... OMIM:602152
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Radial deviation ... OMIM:176270
Post-Traumatic Pituitary Deficiency
Osteopenia, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulatio... ORPHA:95619
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Retrognathia, Osteopenia, Osteoporosis, Coxa vara, Joint stiffness, Micrognathia, Severe... ORPHA:1901
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Palmoplantar hyperkeratosis, Abnormality of the dentition, Osteopo... OMIM:613989
Tarp Syndrome
Optic atrophy, Rocker bottom foot, Low-set, posteriorly rotated ears, Abnormal antihelix morpholo... ORPHA:2886
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy OMIM:165500
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Elbow dislocat... ORPHA:93329
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis, Oligodontia, Short stature, Natal tooth, Hypodontia OMIM:601345
19P13.3 Microduplication Syndrome
Short philtrum, Narrow mouth, Osteoporosis, Unilateral cryptorchidism, Growth delay, Precocious p... ORPHA:447980
Pitt-Hopkins Syndrome
Postnatal growth retardation, Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth... ORPHA:2896
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ... OMIM:610829
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth... ORPHA:2863
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Clark-Baraitser syndrome
Genu valgum, Short palm, Obesity, Macroorchidism, Joint hypermobility, Tapered finger OMIM:300602
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Hepatomegaly, Ivory epiphyses of the toes, Genu valgum, Cone-shaped epiph... OMIM:226980
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sensorineural hearing impairment, Broad thumb, Leukopenia, Splenomegaly, Lympho... OMIM:612541
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Short nose, Intrahepatic cholestasis, 2-4 toe cutaneou... OMIM:607330
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S... OMIM:618728
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Open bite, High palate, Narrow mouth, Short stature, Campto... ORPHA:1327
Congenital Syphilis
Periostitis, Optic atrophy, Anemia, Pancreatitis, Lymphadenopathy, Tibial bowing, Synovitis, Hear... ORPHA:499009
Osteogenesis Imperfecta, Type Vi
Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Bowing of the leg... OMIM:613982
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Wide distal femoral metaphysis, Small for gestational age, Delayed ... OMIM:613320
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Osteoporosis, Short stature, Hyperammonemia, Fa... OMIM:606054
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Premature ovarian insufficiency, Generalized bone demineralization, ... ORPHA:199299
Megalencephaly
Genu valgum, Truncal obesity, Macroorchidism, Long penis ORPHA:2477
Schimke Immunoosseous Dysplasia
Osteopenia, Abnormal T cell morphology, Lateral displacement of the femoral head, Anemia, Pancyto... OMIM:242900
Progressive Pseudorheumatoid Dysplasia
Enlarged metacarpophalangeal joints, Osteoporosis, Coxa vara, Joint stiffness, Camptodactyly of f... OMIM:208230
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Prolonged neonatal jaundice, Optic atrophy... ORPHA:909
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe... ORPHA:140
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypogonadism, Long eyelashes ORPHA:163693
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Reduced bone mineral density, Recurrent fractures, Short stature OMIM:619115
Bangstad Syndrome
Retrognathia, Pancytopenia, Severe short stature, Goiter, Primary gonadal insufficiency, Small fo... OMIM:210740
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Intrauterine growth retardation, Joint hypermobility, Agenesis of incisor, Short fing... OMIM:619841
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f... ORPHA:2108
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Abnormality of... ORPHA:166002
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Abnormality of the hand, Oligodontia, Abnormality of the dentition, Brachyda... ORPHA:1264
Incontinentia Pigmenti
Orofacial cleft, Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal den... ORPHA:464
Catifa Syndrome
Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly, Cleft palate, Lo... OMIM:618761
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials, Sensorineural hearing impairment, Hearing i... OMIM:601338
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potenti... ORPHA:35069
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Bicoronal synostosis, Dental crowding, Oligodontia, Tracheobronchom... OMIM:619184
Sickle Cell Anemia
Reticulocytosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, ... ORPHA:232
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Xp21 Deletion Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr... ORPHA:261476
Antley-Bixler Syndrome
Femoral bowing, Narrow mouth, Joint stiffness, Camptodactyly of finger, Arachnodactyly, Cleft pal... ORPHA:83
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Tooth agenesis, Micrognathia, Mesomelia, Brachydactyly ORPHA:1277
Aromatase Deficiency
Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postp... ORPHA:91
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Hypothyroidism, Hyponatremia, Hashimoto thyroiditi... ORPHA:83601
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Osteoporos... OMIM:612562
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Parathyroid... OMIM:617994
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Metaphyseal irregul... OMIM:177170
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Reduced bone mineral density, Genu valgum, Upper limb undergrowth, Laryng... ORPHA:94068
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Proximal placement of thumb, Disproportionate short... OMIM:261540
Meningioma
Enlarged pituitary gland, Amenorrhea, Reduced circulating prolactin concentration, Decreased circ... ORPHA:2495
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Eleva... ORPHA:73230
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
C Syndrome
Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ... OMIM:211750
Hajdu-Cheney Syndrome
Dislocated radial head, Crowded carpal bones, Pathologic fracture, Long philtrum, Joint hypermobi... OMIM:102500
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepati... OMIM:607765
X Small Rings
Long philtrum, Premature ovarian insufficiency, Reduced bone mineral density, Clinodactyly of the... ORPHA:96201
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Hypoplastic iliac wing, Delayed skeletal maturation, Narrow palate, Oligodontia, Ca... OMIM:235510
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Increased body we... ORPHA:264580
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal flash visual evoked potentials, Abnormality of somatosensory evoked poten... ORPHA:98755
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia, Oste... OMIM:600740
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Microtia, Short metacarpal, Hypoplastic pelvis, Sparse hair, Short distal phalanx of finger, Clin... OMIM:614813
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Elevated circulating... ORPHA:404454
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn... OMIM:604757
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa v... ORPHA:2848
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Short stature, Eosinophilia, Osteoporosis OMIM:620532
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Hypercalcemia, Hyperph... OMIM:211900
Estrogen Resistance
Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap... OMIM:615363
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Hydrocele testis, Th... ORPHA:96181
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, High palat... ORPHA:77258
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Polycystic liver disease OMIM:109130
De Barsy Syndrome
Osteopenia, Postnatal growth retardation, Adducted thumb, Delayed eruption of teeth, Narrow mouth... ORPHA:2962
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Macrotia, Low-set ears, Attached earlobe ORPHA:436245
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Wrist flexion contracture, Abnormally ossified vertebrae, E... ORPHA:800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Hepatomegaly, Disproportionate short-limb short stature, Delayed epiphysea... OMIM:602557
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Microdontia, Lymphopenia, Intrauterine g... OMIM:620005
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Bone... ORPHA:528
Laron Syndrome
Delayed puberty, Delayed eruption of teeth, Microdontia, Tooth agenesis, Delayed skeletal maturat... ORPHA:633
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Limb hypertonia, Laryngotracheomalacia, Prominent fingertip pads, Abnormality of v... OMIM:616875
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Hepatomegaly, Thick lower lip vermilion, Short philtrum, Dental crowding, ... OMIM:618342
Ollier Disease
Abnormal metaphysis morphology, Anemia, Micromelia, Joint stiffness, Precocious puberty, Lymphang... ORPHA:296
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Disproportionate short stature, Generalized bone demineralization, Delayed ep... ORPHA:93352
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of finger, Long philtru... OMIM:616331
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Abnormality of visual evoked potentials, Weight loss, M... ORPHA:79430
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Premature loss of teeth, O... OMIM:127550
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, ... ORPHA:280356
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
Spondyloocular Syndrome
Osteopenia, Femur fracture, Decreased body weight, Abnormality of the dentition, Short stature, A... OMIM:605822
48,Xxyy Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja... ORPHA:10
Menkes Disease
Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Osteoporosis, Short stature... OMIM:309400
Lujan-Fryns Syndrome
Protruding ear, Low-set ears, Camptodactyly of finger, Arachnodactyly, Brachydactyly, Joint hyper... ORPHA:776
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abnormal epiphysi... ORPHA:1458
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ... ORPHA:485421
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent... OMIM:613684
Idiopathic Juvenile Osteoporosis
Bone pain, Recurrent fractures, Osteoporosis ORPHA:85193
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Macroorchidism OMIM:300706
Dent Disease
Rickets, Delayed epiphyseal ossification, Bone pain, Enlarged epiphyses, Sparse bone trabeculae, ... ORPHA:1652
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short metacar... OMIM:611717
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Coronary artery atherosclerosis, Increased bone mineral density, Hypocalce... ORPHA:36913
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macrotia, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism OMIM:300238
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade... OMIM:619644
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Sparse ... ORPHA:85138
Prader-Willi Syndrome
Osteopenia, Periodontitis, Abnormality of the dentition, Osteoporosis, Short stature, Failure to ... ORPHA:739
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Reduced bone mineral density, Neoplasm of the pancreas, Pheochromocyt... ORPHA:652
Robinow Syndrome
Hypoplastic labia majora, Broad alveolar ridges, Dental crowding, Fused thoracic vertebrae, Long ... ORPHA:97360
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Ab... ORPHA:915
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi... ORPHA:2107
Craniosynostosis, Herrmann-Opitz Type
Short nose, Finger syndactyly, Split hand, Micromelia, Short stature, Micrognathia, Cleft palate,... ORPHA:2145
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Obesity, Focal EEG discharges with secondary generalization, Macroorchidism ORPHA:3077
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Short middle phalanx of the 5th finger, Carious teeth, Cutan... OMIM:203550
Poems Syndrome
Hepatomegaly, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, Sclerosis of hand bone... ORPHA:2905
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Hepatomega... ORPHA:79240
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Large for gestational age, Short nose, Lambdoidal craniosynostosis, Hypoplasia of the... OMIM:615398
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul... OMIM:615777
Paget Disease Of Bone 3
Bone pain, Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Kniest Dysplasia
Disproportionate short stature, Fused cervical vertebrae, Enlarged metaphyses, Delayed epiphyseal... ORPHA:485
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Hyperactivity,... ORPHA:525731
Weill-Marchesani Syndrome 2
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... OMIM:608328
Glass Syndrome
Long nose, Anterior tibial bowing, Conical tooth, Dental crowding, Oligodontia, Gingival overgrow... OMIM:612313
Fragile X Syndrome
Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Macroorchidism, postpube... OMIM:300624
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Periportal fibrosis, Wide anterior fontanel, Short lo... OMIM:263210
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Abnormal circulating testosterone concentration, Hypokalemia, Hirsutism, Oligozo... ORPHA:786
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Avascular necrosis, Increased bone mineral density, Bone ... ORPHA:35687
Mccune-Albright Syndrome
Pathologic fracture, Craniofacial hyperostosis, Polyostotic fibrous dysplasia OMIM:174800
Trisomy 20P
Reduced bone mineral density, Abnormal hip bone morphology, Highly arched eyebrow, Abnormal auton... ORPHA:261318
Werner Syndrome
Neoplasm of the oral cavity, Rocker bottom foot, Thyroid carcinoma, Aplasia/Hypoplasia of the tes... ORPHA:902
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:97290
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Short stature... OMIM:613990
Trichothiodystrophy
Osteopenia, Retrognathia, High, narrow palate, Anemia, Increased mean corpuscular hemoglobin conc... ORPHA:33364
Satoyoshi Syndrome
Amenorrhea, Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnorm... ORPHA:3130
Dermatitis Herpetiformis
Delayed eruption of teeth, Bone pain, Microcytic anemia, Dental enamel pits, Erosion of oral muco... ORPHA:1656
Intellectual Developmental Disorder, X-Linked 2
Short stature, Macroorchidism OMIM:300428
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Finger syndactyly, Oligodontia, S... ORPHA:1787
Atkin-Flaitz Syndrome
Short stature, Macrotia, Obesity, Macroorchidism ORPHA:1193
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Neu-Laxova Syndrome
Rickets, Osteopenia, Retrognathia, Abnormality of the philtrum, Everted lower lip vermilion, Oste... ORPHA:2671
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Hemochromatosis, Type 3
Anemia, Arthritis, Impotence, Increased circulating iron concentration, Lymphopenia, Elevated tra... OMIM:604250
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Broad secondary alveolar ridge, High palate, Multiple suture cranio... ORPHA:3369
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Hepatomegaly, Genu valgum, Craniofacial hyperostosis, Adenoiditis, ... ORPHA:581
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Growth delay, Micrognathia, Malar flattening, Osteolysis OMIM:176670
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Flexi... OMIM:193700
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Long ph... ORPHA:2496
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter... OMIM:113000
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Portal hypertension, Growth delay, Bone marrow hypocellularity, Abnorma... OMIM:617341
Mepan Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:508093
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Undetectable visual evoked potentials, Posteriorly rotated ears ORPHA:163961
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, P... ORPHA:69087
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagia, Hypergonadotropi... OMIM:606407
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Micrognathia, Natal tooth, Sagittal craniosynostosis OMIM:616901
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Postnatal growth retardation, Epiphyseal dysplasia, Delayed skeletal maturation, Meta... OMIM:614732
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Splenomegaly, Pancreatic fibrosis... ORPHA:699
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Genu valgum, Flat capital femoral epiphysis, Abnormality of the elbow, Limitation... ORPHA:1159
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Epiph... OMIM:617425
Teebi Hypertelorism Syndrome 1
Dental crowding, Coronal craniosynostosis, Short stature, Micrognathia, Natal tooth, Long philtru... OMIM:145420
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Bone pain, Short stature, Failure to thrive, Growth delay,... ORPHA:18
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Sapho Syndrome
Hyperostosis, Arthritis, Bone pain, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, ... ORPHA:793
Pontocerebellar Hypoplasia, Type 2E
Short nose, Osteoporosis, Short stature, Failure to thrive, Micrognathia, Flexion contracture OMIM:615851
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n... OMIM:231550
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplasia of the calcaneus, Decre... OMIM:300863
Opsismodysplasia
Short nose, Rhizomelia, Disproportionate short-limb short stature, Metaphyseal cupping, Short met... OMIM:258480
Trichothiodystrophy 3, Photosensitive
Eclabion, Carious teeth, Failure to thrive, Natal tooth, Short stature, Lymphopenia, Intrauterine... OMIM:616395
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619232
Partington Syndrome
EEG abnormality, Macroorchidism ORPHA:94083
Coffin-Siris Syndrome 3
Joint hypermobility, High palate, Short stature, Delayed skeletal maturation, Cleft palate, Wide ... OMIM:614608
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, De... OMIM:617237
Estrogen Resistance Syndrome
Osteopenia, Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Delaye... ORPHA:785
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Steinert Myotonic Dystrophy
Impotence, Abnormality of the tongue muscle, Aggressive behavior, Decreased response to growth ho... ORPHA:273
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Osteoporosis, Short stature, Disproportionate short-trunk s... ORPHA:85194
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased body weight, Osteoporosis, Adrenal hyperplasia, Diabetes mellitus, Primary ... OMIM:615830
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp... OMIM:600373
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Decreased circulating... OMIM:146510
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, High palate, Sh... OMIM:614607
Coxoauricular Syndrome
Short stature, Reduced bone mineral density, Abnormal femur morphology, Micromelia ORPHA:1508
Hallermann-Streiff Syndrome
Narrow palate, Decreased number of sternal ossification centers, Thin vermilion border, Supernume... OMIM:234100
Apert Syndrome
Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po... OMIM:101200
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Pelizaeus-Merzbacher Disease
Optic atrophy, Cachexia, Joint stiffness, Abnormality of visual evoked potentials, Hearing impair... ORPHA:702
Mpdu1-Cdg
Hypsarrhythmia, Undetectable visual evoked potentials, Decreased response to growth hormone stimu... ORPHA:79323
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an... OMIM:620632
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal irregularity, Short iliac bones, Metaphyseal sclerosis, Juvenile rheumatoid arthritis... OMIM:607944
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Short stature, Bone marrow hypocellularity, F... OMIM:619151
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Bone pain, Splenomegaly, Weight loss, Pathologic fracture ORPHA:29073
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adreno... OMIM:610475
Roifman Syndrome
Postnatal growth retardation, Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Shor... OMIM:616651
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome... ORPHA:2632
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... OMIM:613239
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Short metacarpal, Pseudohypoparathy... OMIM:603233
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Failure to th... ORPHA:397596
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Palmoplantar hyperkeratosis, Osteoporosis, Microdontia, Bone marro... OMIM:224230
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Limb hypertonia, Abnormal pinna morphology, Laryngotracheomalacia, Prominent finge... ORPHA:480898
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature, Delayed ossification of carpal bones, Short dental roo... OMIM:271510
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulocytopenia, Sho... ORPHA:508542
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Cervical C2/C3 vertebral fusion, Hammertoe, High palate, Osteoporosis, Micrognathia, ... OMIM:618000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Hepatomegaly, Osteoporosis, Failure to thrive, Type I diabetes mellitus OMIM:560000
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Acrocephalopolydactyly
Short nose, Limb undergrowth, Hepatosplenomegaly, Brachydactyly ORPHA:221054
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Ragged-red muscle fibers, Sensorineural hearing impairment, Undetectab... OMIM:252010
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ... OMIM:143095
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal metacarpal morpholo... ORPHA:2631
Infantile Nephropathic Cystinosis
Rickets, Abnormality of thyroid physiology, Hypokalemia, Growth delay, Failure to thrive, Hypopho... ORPHA:411629
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Disproportionate short-limb short stature, Sandal gap... ORPHA:1507
Pendred Syndrome
Increased circulating thyroglobulin concentration, Goiter, Thyroid carcinoma, Compensated hypothy... OMIM:274600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abnorma... OMIM:125310
Kallmann Syndrome
Delayed puberty, Reduced bone mineral density, Tooth agenesis, Delayed skeletal maturation, Obesi... ORPHA:478
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Sinusitis, Failure to thrive, Absence of lymph node germina... ORPHA:277
Chime Syndrome
Acute leukemia, Supernumerary tooth, Short philtrum, Aplasia/Hypoplasia of the phalanges of the t... ORPHA:3474
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporo... OMIM:219080
Congenital Myopathy 22A, Classic
Dental crowding, High palate, Scapular winging, Osteoporosis, Congenital finger flexion contractu... OMIM:620351
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno... OMIM:250460
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Paranasal sinus hypoplasia, Arachnodactyly, Bifid uv... OMIM:300373
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinodactyly of the 3... ORPHA:221139
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Aphthous ulcer, Carious teeth, ... OMIM:620603
Cowden Syndrome 1
Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hypothyroidism, Varicocele, Hypoplasia o... OMIM:158350
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Broad finger, High, narrow palate, Decreased response t... ORPHA:488632
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Anemia, Clinodactyly of the 5th finger, Everted lower lip vermilion, Thin up... OMIM:618067
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Cachexia, Everted lower lip vermilion... ORPHA:884
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Dental crowding, Short metacarpal, Mi... OMIM:180870
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption OMIM:606893
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Uplifted earlobe, Macroorchidism, Synophrys OMIM:300143
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... ORPHA:189427
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Enamel hypoplasia, Anemia, Oral mucosal blisters ORPHA:79402
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Achondrogenesis, Type Ii
Short tubular bones of the hand, Disproportionate short-limb short stature, Hypoplastic iliac win... OMIM:200610
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Sandal gap, Tibial bowing, Glossoptosis, Limitation of... ORPHA:1427
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Oste... ORPHA:99742
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Delayed sk... OMIM:170390
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Sparse eyebrow, Macroorchidism, Short stature ORPHA:139474
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification ORPHA:280062
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Limitation of joint mobility, Bowing of the long bones, Missing r... ORPHA:1801
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Hypoplas... OMIM:616300
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve... OMIM:618506
ERI1-related disease
Osteopenia, Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Olig... OMIM:608739
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Type 1 muscle fiber atrophy, Distal ... OMIM:617519
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic pub... OMIM:609616
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Proximal placement of thumb, Dental crowding, Short stature, Arach... OMIM:620370
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Generalized osteoporosis, Short palm, Short stature, Short femoral neck, Small joint... OMIM:184095
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials, Decreased amplitude of sensory action pot... OMIM:229300
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Single transverse palmar c... OMIM:617412
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Renal interstitial amyloid deposits, Male infertility, Hepatomegaly, Pr... ORPHA:85450
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Alg12-Cdg
Overlapping fingers, Abnormal bone ossification, Elevated circulating hepatic transaminase concen... ORPHA:79324
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia OMIM:620365
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Neonatal short-limb short stature, Short long bone, Limitation of j... OMIM:224400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Abnormality of... ORPHA:935
Brittle Cornea Syndrome 1
Joint hypermobility, Dentinogenesis imperfecta, Congenital hip dislocation OMIM:229200
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Abnormality of visual evoked potentials OMIM:615491
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Bone pain, Rootless teeth, Abnormality o... ORPHA:416
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e... ORPHA:2050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Retrognathia, Long nose, Abnormal circulating calcium... ORPHA:2636
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Abnormal femur morphology, Genu valgum, Irregular epiphyses, Bone pain, Joint ... ORPHA:1822
Stickler Syndrome
Reduced bone mineral density, Cachexia, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula... ORPHA:828
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Hypoplastic spleen, Microretrognathia, Intrauterine growth retardation, Adduc... ORPHA:89844
Rabson-Mendenhall Syndrome
Polydipsia, Premature graying of hair, Clitoral hypertrophy, Dental crowding, Increased pineal vo... ORPHA:769
Dent Disease 2
Short stature, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Coarse metaphyseal trabecularization, Metaphyseal widening, Brachydactyly, Paten... OMIM:618961
Craniotubular Dysplasia, Ikegawa Type
Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Short stature, Broa... OMIM:619727
Bloom Syndrome
Intrauterine growth retardation, Acute myeloid leukemia, Recurrent tonsillitis, Azoospermia, Decr... ORPHA:125
Fragile X Syndrome
Chronic otitis media, Protruding ear, Macrotia, Otitis media, Joint hypermobility, Macroorchidism ORPHA:908
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... OMIM:118400
Three M Syndrome 2
Small for gestational age, Delayed eruption of teeth, Slender long bone, High palate, Intrauterin... OMIM:612921
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc pallor OMIM:618195
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Short stature, Brachy... OMIM:613382
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Nail dystrophy, De... ORPHA:293978
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Limb hypertonia, Diabetes insipidus, Undetectable visual evoked potenti... ORPHA:423479
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Wide anterior fontanel, Congenital hip dislocation, Long philtrum, ... ORPHA:357058
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Furrowed tongue, Micromelia, Short stature, Camptodactyly of fin... ORPHA:2928
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive, Growth delay OMIM:602722
Immunodeficiency 31C
Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte trans... OMIM:614162
Fowler Urethral Sphincter Dysfunction Syndrome
Hirsutism, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Dental malocclusion, Pancytopenia, Delayed eruption of teeth, Juveni... ORPHA:1855
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Reduced bone mineral density, Open bite, Carious teeth, Micrognathia,... ORPHA:2617
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio... OMIM:602535
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Leukopenia, Fasting hyperinsulinemia, Hyperinsulinemia,... ORPHA:2298
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Tracheob... OMIM:309900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Osteolytic defects of the phalanges of th... ORPHA:280365
Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Short stature, Elevated hemoglo... OMIM:277700
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:90321
Shashi-Pena Syndrome
Retrognathia, Deep palmar crease, Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis... OMIM:617190
Thyroid Cancer, Nonmedullary, 4
Prostate cancer, Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrotia, Macroorchidism OMIM:300886
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Thin vermilion border, Genu valgum, Delayed epiphyseal ossification, Flared metaphysi... OMIM:616007
48,Xxxy Syndrome
Small scrotum, Abnormal social behavior, Azoospermia, Hypoplasia of penis, Delayed eruption of te... ORPHA:96263
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Delayed skeletal ... OMIM:257850
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, A... OMIM:269600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Postnatal growth retardation, Hepatomegaly, Dental crowding, Premature loss of teeth,... OMIM:248370
Cantú Syndrome
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Osteoporosis, Short distal phala... ORPHA:1517
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating... OMIM:146200
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Recurrent mandibular subluxations, Postnatal growth retardation, Hypodontia, Gingival... OMIM:225410
Nail-Patella Syndrome
Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t... ORPHA:2614
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Upper limb muscle weakness, Decreased serum testosterone concentrat... OMIM:609195
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Genu valgum, Dental crowdi... ORPHA:394
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Osteoporosis OMIM:601979
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Short ribs, Mic... OMIM:600972
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Agammaglobulinemia 8B, Autosomal Recessive
Everted upper lip vermilion, Anemia, Short philtrum, Pancytopenia, B lymphocytopenia, Increased p... OMIM:619824
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Pancreatitis, Hyperuricemia, Oral ulcer, Hepatocellular carcinoma,... OMIM:232220
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, P... OMIM:614576
Farber Disease
Short finger, Abnormality of the hand, Abnormality of the wrist, Anemia, Lymphadenopathy, Arthrit... ORPHA:333
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Camptodactyly, Growth delay, Enamel hypoplasia, Cleft palate, Thromb... OMIM:619980
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Tracheomalacia, ... OMIM:203700
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Orofaciodigital Syndrome I
Radial deviation of finger, Ovarian cyst, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridg... OMIM:311200
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Hepatomegaly, Rhizomelia, Anemia, Abnormal fe... ORPHA:1842
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Black pigment gallstones, Ar... ORPHA:56
Sclerosteosis 1
Tooth malposition, Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of fi... OMIM:269500
Cowden Syndrome 6
Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hypothyroidism, Varicocele, Hypoplasia o... OMIM:615109
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number of alpha granules,... OMIM:139090
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs, Short stature, Growth delay OMIM:615605
Schneckenbecken Dysplasia
Short nose, Disproportionate short-limb short stature, Short ribs, Dumbbell-shaped long bone, Bil... OMIM:269250
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Cowden Syndrome 5
Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hypothyroidism, Hypoplasia of the maxill... OMIM:615108
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Delayed er... OMIM:309350
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Reduced bone mineral density, Cachexia, Abnormality of ... ORPHA:1979
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridg... ORPHA:2686
Acromesomelic Dysplasia 3
Radial deviation of finger, Disproportionate short-limb short stature, Aplasia of the proximal ph... OMIM:609441
Familial Glucocorticoid Deficiency
Anorexia, Hyperkalemia, Azoospermia, Decreased circulating dehydroepiandrosterone concentration, ... ORPHA:361
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Short stature, Limb undergrow... ORPHA:156728
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, T ly... ORPHA:508533
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... OMIM:400044
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E... OMIM:619736
Acromicric Dysplasia
Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal... OMIM:102370
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Abnormal pancreatic du... ORPHA:1190
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Decreased circulating T4 concentration, Thyroid defect in oxidation and o... OMIM:274500
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, De... OMIM:607778
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Delayed puberty, Short lingual frenulum, Osteoporosis, Bilateral cryptorchidism, Shor... ORPHA:2326
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Genu valgum, Short stature, Hypoplasia of teeth, Carious teeth, Coxa va... OMIM:613312
Rin2 Syndrome
Gingival overgrowth, High palate, Irregular dentition, Brachydactyly, Long philtrum, Joint hyperm... ORPHA:217335
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Retrognathia, Thin vermilion border, Postnatal growth retardation, Proximal placement... OMIM:212066
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Genu valgum, Solitary median maxillary central incisor, Hammertoe, Cl... ORPHA:2712
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym... ORPHA:97289
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition ORPHA:627
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Clubbing, Limitation of j... OMIM:259100
Beta-Thalassemia
Reduced bone mineral density, Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Anem... ORPHA:848
Autosomal Dominant Robinow Syndrome
Retrognathia, Severe short stature, Long philtrum, Anodontia, Coxa valga, Short philtrum, Oligodo... ORPHA:3107
Wrinkly Skin Syndrome
Osteopenia, Postnatal growth retardation, Delayed eruption of teeth, High palate, Congenital hip ... ORPHA:2834
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Delayed puberty, Ectrodactyly, Tooth agenesis, Short stature, Cleft upper lip, Clinod... OMIM:147950
Cog1-Cdg
Osteopenia, Postnatal growth retardation, Rhizomelia, Short long bone, High palate, Narrow mouth,... ORPHA:263508
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, P... ORPHA:507
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Bilateral sensorineural hearing impairment, A... ORPHA:309271
Intermediate Nemaline Myopathy
High, narrow palate, Multiple prenatal fractures, Flexion contracture, Long philtrum, Arthrogrypo... ORPHA:171433
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... ORPHA:952
Lenz-Majewski Hyperostotic Dwarfism
Delayed skeletal maturation, Syndactyly, Joint hypermobility, Intrauterine growth retardation, El... OMIM:151050
Multiple Pterygium Syndrome, X-Linked
Short finger, Cleft upper lip, Micrognathia, Cleft palate, Vertebral fusion, Flexion contracture,... OMIM:312150
Char Syndrome
Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger... ORPHA:46627
Desmosterolosis
Rhizomelia, Gingival fibromatosis, Failure to thrive, Micrognathia, Cleft palate, Patent ductus a... OMIM:602398
Igg4-Related Thyroid Disease
Euthyroid goiter, Hypocalcemia, Sialadenitis, Thyroiditis, Abnormal pituitary gland morphology, T... ORPHA:64744
Ellis Van Creveld Syndrome
Acute leukemia, Thin vermilion border, Intrauterine growth retardation, Genu valgum, Neonatal sho... ORPHA:289
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Elevated circulating C-reactiv... ORPHA:85435
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Small for ... ORPHA:453510
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Delayed skeletal maturation, Sh... OMIM:210720
Chand Syndrome
Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss... ORPHA:1401
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Short Syndrome
Radial deviation of finger, Small for gestational age, Delayed eruption of teeth, Slender long bo... OMIM:269880
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Maternal diabetes, Pancreatitis, Hyperuricemia, Secondary amenorrhea, Coron... ORPHA:79083
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Thrombocytopenia, Splenomegal... ORPHA:457077
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Craniofaciofrontodigital Syndrome
Osteopenia, Long philtrum, Large for gestational age, Gingival overgrowth, Prominent median palat... ORPHA:363705
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Anemia, Short stature OMIM:226670
X-Linked Intellectual Disability, Snyder Type
Thick lower lip vermilion, Short philtrum, Dental crowding, Mandibular prognathia, High palate, E... ORPHA:3063
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Acute pancreatitis, Portal hypertension, Osteoporosis, Hypothyroidism, Fail... OMIM:619487
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased liver function, Cirrhosis, Hepatomegaly, Delayed puberty, Cholelithiasis, A... ORPHA:77293
Menkes Disease
Abnormal metaphysis morphology, Abnormal palate morphology, Tarsal synostosis, Bowing of the long... ORPHA:565
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Acute Adrenal Insufficiency
Anorexia, Hyperkalemia, Normocytic anemia, Delayed puberty, Hyperuricemia, Adrenal hypoplasia, An... ORPHA:95409
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bilateral single transverse palmar creases, Retrognathia, Long nose, Thyroid agenesis, Clinodacty... ORPHA:3047
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Abnormal dental enamel morphology, Man... ORPHA:96264
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Bila... ORPHA:309256
Ascher Syndrome
High palate, Hypothyroidism, Deviation of finger, Goiter, Abnormal upper lip morphology ORPHA:1253
Lysinuric Protein Intolerance
Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating hepatic trans... ORPHA:470
Lowe Oculocerebrorenal Syndrome
Rickets, Postnatal growth retardation, Genu valgum, Pathologic fracture, Finger swelling, Short s... OMIM:309000
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Intermittent thro... OMIM:150550
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Advanced eruption of teeth, Pancreatitis, Coronary artery atherosclerosis, ... ORPHA:2348
Scarf Syndrome
Hepatocellular adenoma, Joint hypermobility, Enamel hypoplasia, Short sternum, Long philtrum, Cra... ORPHA:3134
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Short nose, High, narrow palate, Hypoplasia of the radius, Abnormal metac... ORPHA:3258
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia, Short stature ORPHA:2871
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Low-set ears, Broad thumb, Arachnodactyly, Flexion contr... OMIM:309520
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc... ORPHA:166108
Chst3-Related Skeletal Dysplasia
Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption of teeth, Short m... ORPHA:263463
Gaucher Disease, Type I
Hepatomegaly, Anemia, Avascular necrosis, Pancytopenia, Bone pain, Thrombocytopenia, Splenomegaly... OMIM:230800
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Genu valgum, Avascular necrosis, Delayed eruption of teeth, Hypoplastic iliac wing,... OMIM:253200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism, Hypokalemia OMIM:188580
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Clubbing, Splenomegaly,... ORPHA:3260
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo... OMIM:203800
Johanson-Blizzard Syndrome
Anemia, Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Microdontia, Short ... ORPHA:2315
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Elevated circulating creatine k... OMIM:613327
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Bila... ORPHA:309263
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Polycythemia Vera
Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm... ORPHA:729
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Laron Syndrome
Limb undergrowth, Delayed menarche, Severe short stature, Decreased serum insulin-like growth fac... OMIM:262500
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
X-Linked Intellectual Disability, Shashi Type
Macrotia, Obesity, Macroorchidism ORPHA:85286
Thrombocytopenia 6
Thrombocytopenia, Myelofibrosis, Osteoporosis OMIM:616937
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Short stature, Metaphyseal widening... OMIM:259770
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Joint hypermobility, High palate, Persistence of primary teeth, Eosinophilia, Recurre... OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... OMIM:601457
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Short stature, Hypophosphatemia OMIM:308990
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, S... OMIM:301072
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed puberty, Short stature, Delayed eruption of teeth ORPHA:1816
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Slender long bone, Wide anterior fontanel, High palate, Mi... OMIM:278250
Dpm1-Cdg
High, narrow palate, Hepatomegaly, Sandal gap, Elevated circulating creatine kinase concentration... ORPHA:79322
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Familial Dysautonomia
Avascular necrosis, Abnormal peritoneum morphology, Growth delay, Recurrent fractures, Osteolysis ORPHA:1764
Glycerol Kinase Deficiency
Chronic pancreatitis, Osteoporosis, Short stature, Growth delay, Downturned corners of mouth, Pat... OMIM:307030
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Severe short stature ORPHA:168555
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis, Oligomenorrhea, Obesity, Pituitary adenoma, Increased circulating ACTH... OMIM:219090
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Recurrent sinusitis, Splenomegaly, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Retrognathia, Hepatomegaly, Fused cervical vertebrae, Cholelithiasi... ORPHA:83617
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ... OMIM:609981
Oculodentodigital Dysplasia
Vertebral hyperostosis, Joint contracture of the 5th finger, Broad alveolar ridges, Premature los... OMIM:164200
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Overlapping fingers, Recurrent aphthous stomatitis, Abnormal natural killer cell morphology, B ly... OMIM:615966
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu... ORPHA:175
Mucolipidosis Type Iii Alpha/Beta
Postnatal growth retardation, Gingival overgrowth, Joint stiffness, Generalized osteoporosis, Sho... ORPHA:423461
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Hitchhiker thumb, Micromelia, Micrognathia, Cleft palate, Dumbbell-sha... OMIM:256050
Smith-Magenis Syndrome
Delayed puberty, Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Short sta... ORPHA:819
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, B lymphocytopenia, Neutropenia in prese... ORPHA:391487
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Hepatomegaly, Abnormal met... ORPHA:1597
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Osteoporosis OMIM:601811
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineura... OMIM:602782
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular ... ORPHA:353
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, T... OMIM:619719
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu... ORPHA:2249
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Jaundice, Elevated circulating hepatic transaminase concentration, Gingival overgrowt... OMIM:614231
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Decreased response to growth hormone stimulation test, Widely spaced teeth, ... ORPHA:268261
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Hypercalce... ORPHA:94086
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat... OMIM:619356
Schinzel-Giedion Syndrome
Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Short distal phalanx... ORPHA:798
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve... OMIM:601957
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells OMIM:613501
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Macrotia, Macroorchidism, Contractures of the large joints, Overfolded... ORPHA:324410
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Abnormal metacarpal morphology, Acromesomelia, U... ORPHA:168549
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Distal Deletion 12Q
Biliary atresia, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, L... ORPHA:96149
Occipital Horn Syndrome
Cholestasis, Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Long philtrum, Jo... ORPHA:198
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
4H Leukodystrophy
Delayed puberty, Delayed eruption of teeth, Abnormality of the dentition, Short stature, Hypodontia ORPHA:289494
Treacher-Collins Syndrome
Retrognathia, Glossoptosis, Thyroid hypoplasia, Tooth agenesis, Wide mouth, Abnormality of the de... ORPHA:861
Multiple Pterygium Syndrome, Lethal Type
Short finger, Micrognathia, Cleft palate, Flexion contracture, Vertebral fusion, Intrauterine gro... OMIM:253290
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Long philtrum, Tented philtrum, Broad eyebrow, Hypospadias, Hirsutism, H... ORPHA:495875
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ... OMIM:258850
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Proteus Syndrome
Macrodactyly, Cachexia, Abnormal finger morphology, Calvarial hyperostosis, Joint stiffness, Lymp... ORPHA:744
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Short stature OMIM:179830
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Grange Syndrome
Short palm, Syndactyly, Increased susceptibility to fractures, Patent ductus arteriosus ORPHA:79094
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum, Tapered finger OMIM:618825
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormality of the wrist, Limitation of joint mobility, Joint stiffness, ... ORPHA:66627
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Thin vermilion border, Elbow flexion contracture, Osteoporosis, Flexion contracture, ... OMIM:614438
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Facial palsy, Abnormality of visual evoked potentials, Pachygyria, Lissencephaly ORPHA:258
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
48,Xyyy Syndrome
Thick lower lip vermilion, Dislocated radial head, High palate, Enamel hypoplasia, Irregularly sp... ORPHA:99329
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Single transverse palmar crease, Incisor macrodontia, Narrow mouth, Short ... OMIM:615502
Burkitt Lymphoma
Neoplasm of the oral cavity, Hyperuricemia, Abnormality of the ovary, Decreased proportion of CD4... ORPHA:543
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Low-set, posteriorly rotated ears, Clinodactyly of the... ORPHA:3320
Pallister-Hall-Like Syndrome
Short nose, Anterior hypopituitarism, Short ribs, Postaxial hand polydactyly, Micromelia, Short s... OMIM:241800
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... ORPHA:181
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Multinodular goiter, Postaxial hand polydactyly ORPHA:2091
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Retrognathia, Delayed puberty, Reduced bone mineral density, Biliary c... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Retrognathia, Delayed puberty, Reduced bone mineral density, Biliary c... ORPHA:99228
Monosomy X
Cholestatic liver disease, Retrognathia, Delayed puberty, Reduced bone mineral density, Biliary c... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Retrognathia, Delayed puberty, Reduced bone mineral density, Biliary c... ORPHA:881
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Stuve-Wiedemann Syndrome 2
Short long bone, Bowing of the long bones, Camptodactyly, Thrombocytopenia, Intrauterine growth r... OMIM:619751
Familial Adenomatous Polyposis
Supernumerary tooth, Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliar... ORPHA:733
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing... OMIM:302350
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Failure to thr... ORPHA:411634
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Disproportionate short-limb short stature, Tibial bowing, Joint stiffn... ORPHA:240
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... OMIM:164900
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Nodular goiter, Dysphagia, Weight loss, Goiter ORPHA:142
Emanuel Syndrome
Broad jaw, Tooth malposition, Delayed eruption of teeth, Dental crowding, High palate, Congenital... ORPHA:96170
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown... OMIM:619229
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Sheehan Syndrome
Normochromic anemia, Dyspareunia, Impotence, Decreased circulating cortisol level, Sparse axillar... ORPHA:91355
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short nose, Reduced bone mineral density, Genu valgum, Short philtrum, Dow... ORPHA:2983
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Thyroid hypoplasia, Syndactyly, 4-5 toe syndactyly, Short stature, Mild i... OMIM:308050
Familial Adenomatous Polyposis 1
Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Hepatoblastoma OMIM:175100
Robinow Syndrome, Autosomal Recessive 2
Short nose, Triangular mouth, Cleft soft palate, Sandal gap, Gingival overgrowth, Prominent finge... OMIM:618529
Geleophysic Dysplasia 1
Osteopenia, Cone-shaped epiphysis, Hepatomegaly, Short long bone, Wrist flexion contracture, Shor... OMIM:231050
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mout... ORPHA:818
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Microdontia, Hypoplastic pelvis, Bone marrow hypocellularity, L... ORPHA:1830
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... OMIM:618729
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... ORPHA:199310
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Macroglossia OMIM:274400
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Atypical Werner Syndrome
Hypertriglyceridemia, Delayed puberty, Rocker bottom foot, Reduced bone mineral density, Hypogona... ORPHA:79474
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Small for gestational age,... OMIM:619148
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Decreased cranial base ossification, Rhizomelia, Severe limb s... OMIM:151210
Kabuki Syndrome 2
Postnatal growth retardation, Joint hypermobility, Short 5th finger, Prominent fingertip pads, Hi... OMIM:300867
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Notched primary central incisor, Short stature, Brachydactyly, A... OMIM:620062
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Overweight, Patent du... OMIM:619769
Adrenal Hypoplasia, Congenital
Delayed puberty, Muscular dystrophy, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H... ORPHA:3079
Systemic Lupus Erythematosus 17
Oral ulcer, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Oral ulcer, Decreased proportion of naive T cells, Ar... OMIM:619381
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Short philtrum, Exaggerated cupid's bow, Tap... OMIM:619293
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... OMIM:614753
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia, Hyperparathyroidism ORPHA:2668
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter ORPHA:97285
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:424
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures OMIM:620368
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing... OMIM:269150
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Alopecia of scalp, Hypospadias, Sparse eyelashes, Short stature, Sparse eyebrow, Failure to thriv... OMIM:618874
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, Coarse metaphyseal t... OMIM:620558
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Hepatomegaly, Mandibular prognathia, Short long bone, Limitation of joint... OMIM:252600
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Failure to thrive, Lymph node... OMIM:602450
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-... OMIM:613493
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, High, narrow palate, Genu valgum, Patent ductus arteri... OMIM:117550
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Limited elbow extension, Gingival overgrowth, High palate, Narrow mouth, Bifid uvu... OMIM:123790
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Reduced bone mineral density, Hepatomegaly, Abnormality of the lymphatic sys... ORPHA:1414
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:615518
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, High palate, Micromelia, Short stature, Arachnodactyly, Obesity, Joint h... ORPHA:1035
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Femoral bowing, Sp... OMIM:250250
Gardner Syndrome
Supernumerary tooth, Neoplasm of the pancreas, Odontoma, Abnormality of the dentition, Multiple u... ORPHA:79665
Oculoskeletodental Syndrome
Hypocalcemia, Oligodontia, Elbow flexion contracture, Low posterior hairline, Hypothyroidism, Hyp... OMIM:618440
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Failure to thrive, Thrombocytopenia, Brachydactyly, Decreased... OMIM:618048
Ellis-Van Creveld Syndrome
Neonatal short-limb short stature, Genu valgum, Disproportionate short-limb short stature, Delaye... OMIM:225500
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Hepatomegaly, Anemia, Osteoporosis, Bile duct proliferation, Ankyloglossia, ... OMIM:619525
Achondrogenesis, Type Ia
Short nose, Hypoplastic sacrum, Hypoplasia of the radius, Unossified vertebral bodies, Severe lim... OMIM:200600
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... OMIM:200990
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Severe short stature, Flexion contracture OMIM:619851
Cinca Syndrome
Reduced bone mineral density, Anemia, Hepatomegaly, Elevated circulating C-reactive protein conce... ORPHA:1451
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Dental crowding, Impulsivity, Joint hypermobility, Aggressive behavior, Narrow pal... ORPHA:353281
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Finger syndactyly, Broad alveolar ridges, Exaggerated cupid's bow, Na... ORPHA:2215
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Hearing impairment, Abnormality of visual evoked potentials,... ORPHA:512
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Delayed puberty, Anemia, Iron deficiency anemia, Foot joint contracture, Erosion of o... ORPHA:79408
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer... OMIM:108720
Primary Sclerosing Cholangitis
Cholestasis, Splenomegaly, Type I diabetes mellitus, Jaundice, Thyroiditis, Hepatocellular carcin... ORPHA:171
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Arachnodactyly, Intrauterine growth retardation, Short philtrum, ... ORPHA:280
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Osteomalacia, Renal hypophos... ORPHA:405
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Myositis, Increased circulating IgE level, Increased c... OMIM:620565
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Delayed skeletal maturation, Long philtrum, ... OMIM:122470
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Anemia, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delaye... OMIM:300990
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating thyroglobul... ORPHA:226316
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Myelofibrosis, Thrombocytopenia, ... ORPHA:160
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed... OMIM:618162
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia, Retrognathia, High palate OMIM:614069
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ... OMIM:612852
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Gingival overgrowth, Mandibular pr... ORPHA:354
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Glycogen Storage Disease Ia
Delayed puberty, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipide... OMIM:232200
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Iron deficiency anemia, Osteoporosis, Growth delay, Exocrine pancreatic insufficiency, W... ORPHA:309031
Microphthalmia, Syndromic 2
Sandal gap, Bifid uvula, Long philtrum, Adrenal insufficiency, 2-3 toe cutaneous syndactyly, Radi... OMIM:300166
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Orofacial cleft, Hepatomegaly, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, S... OMIM:615630
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Emanuel Syndrome
Broad jaw, Dental crowding, High palate, Congenital hip dislocation, Failure to thrive, Micrognat... OMIM:609029
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Retrognathia, Spina bifida occulta, Broad femoral neck, Delayed skeletal maturation, ... ORPHA:488434
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia OMIM:273680
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Undetectable electroretinogram, Irregular epiphyses, Sensorineural hearing impairment, Abnormal a... OMIM:619260
Roberts Syndrome
Radial deviation of finger, Proximal placement of thumb, Sandal gap, Severe intrauterine growth r... ORPHA:3103
Hypomagnesemia 3, Renal
Rickets, Amelogenesis imperfecta, Elevated circulating parathyroid hormone level, Hypocalcemic se... OMIM:248250
Duplication Of The Pituitary Gland
Supernumerary tooth, Retrognathia, Abnormality of joint mobility, Decreased body weight, Abnormal... ORPHA:314621
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li... ORPHA:321
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Slc39A8-Cdg
Osteopenia, Hypomanganesemia, Disproportionate short-limb short stature, Abnormal blood zinc conc... ORPHA:468699
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Smooth tongue, Growth delay, Enamel hypoplasia, Failure to thrive, Craniosynostosis, Oral... ORPHA:79396
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycy... ORPHA:79085
Mandibuloacral Dysplasia
Postnatal growth retardation, Abnormal tongue morphology, Dental crowding, Short clavicles, Osteo... ORPHA:2457
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hepatomegaly, Hepatic steatosis, Hypophosphatemia OMIM:605911
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Hepatomegaly, Mandibular prognathia, Enamel hypoplasia, Flexion ... ORPHA:90322
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin... ORPHA:435651
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Cushing Disease
Increased circulating ACTH level, Amenorrhea, Decreased eosinophil count, Secondary amenorrhea, I... ORPHA:96253
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Dental crowding, Leukopenia, Syndactyly, Lymphopenia, Joint hypermobility, Long phi... OMIM:620654
Congenital Erythropoietic Porphyria
Osteopenia, Erythrodontia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobi... ORPHA:79277
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Short ribs, Narrow mouth, Limitation of joint mobility, Micromelia, Microgna... ORPHA:1865
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Tooth agenesis... OMIM:268310
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Delayed skeleta... OMIM:157980
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Abnorm... ORPHA:582
Dubowitz Syndrome
Aplastic anemia, Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption o... OMIM:223370
Image Syndrome
Adrenal hypoplasia, Micromelia, Metaphyseal dysplasia, Hypogonadism, Intrauterine growth retardat... ORPHA:85173
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia... OMIM:619143
Neurofibromatosis Type 1
Osteopenia, Delayed puberty, Genu valgum, Abnormal hip bone morphology, Slender long bone, Joint ... ORPHA:636
Glutaric Aciduria Iii
Goiter, Failure to thrive, Hyperthyroidism OMIM:231690
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Mesomelic short stature, Short stature, Metatarsus adductus, Meso... OMIM:163400
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Saul-Wilson Syndrome
Postnatal growth retardation, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the... OMIM:618150
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Short stature, Enamel hypop... ORPHA:557003
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:99819
Hypertrichosis Cubiti
Rhizomelia, Abnormality of the elbow, Micromelia, Severe short stature, Joint hypermobility ORPHA:2220
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Chronic sinusitis OMIM:612692
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Decreased serum leptin, Elevated circulat... ORPHA:435660
Campomelic Dysplasia
Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, T... OMIM:114290
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, Gingival bleedin... ORPHA:906
Familial Isolated Hypoparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Dela... ORPHA:2238
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short stature, Hypo... ORPHA:2491
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci... ORPHA:186
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal cranial nerve mor... OMIM:601596
Short-Rib Thoracic Dysplasia 12
Short finger, Hepatomegaly, Periportal fibrosis, Short long bone, Intrauterine growth retardation... OMIM:269860
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor... ORPHA:3003
Isolated Cleft Lip
Supernumerary maxillary incisor, Small for gestational age, Talipes equinovarus, Non-midline clef... ORPHA:199302
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... OMIM:187900
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Abnormality of pattern visual evoked potentials, Orthostatic hyp... ORPHA:2822
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Gliosis, Absent brainstem auditory responses, Growth delay, Thromb... ORPHA:3240
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Hypocalcemia, Arthritis, Glossoptosis, Sinusitis, Failure to thrive, Thrombo... ORPHA:47
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Thick lower lip vermilion, Tracheomalacia, Abnormality of the dentitio... ORPHA:261652
Restrictive Dermopathy 1
Rocker bottom foot, Wide anterior fontanel, Short clavicles, Osteolytic defects of the distal pha... OMIM:275210
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Hardikar Syndrome
Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundi... OMIM:301068
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Blepharochalasis And Double Lip
Goiter, Duplication of the upper lip OMIM:109900
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Sandal gap, Joint stiffness, Elevated he... OMIM:619127
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Short stature, Hypomagnesemia, Hype... OMIM:601198
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal metaphysis morphology, Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick... ORPHA:86818
Zimmermann-Laband Syndrome 1
Hepatomegaly, Short philtrum, Gingival fibromatosis, Delayed eruption of teeth, Hyperextensibilit... OMIM:135500
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Retrognathia, Anemia, Short philtrum, Schistocytosis, Short long bone, Downturned corners of mout... OMIM:301110
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Oligodontia, Short stature, Growth delay, Natal tooth, Hypodontia, Hip... OMIM:614381
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Humeroradial synostosis, For... OMIM:251230
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Oligodontia, ... OMIM:210730
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s... ORPHA:37553
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Long nose, Anemia, Disproportionate short-limb short st... OMIM:616541
Seckel Syndrome 5
Retrognathia, Clinodactyly of the 5th finger, Oligodontia, Selective tooth agenesis, High palate,... OMIM:613823
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Gingival fibromatosis, Bone cyst, Limitation ... ORPHA:2591
Noonan Syndrome
Osteopenia, Postnatal growth retardation, Juvenile myelomonocytic leukemia, Hepatomegaly, Thick l... ORPHA:648
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta... OMIM:614188
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,... OMIM:614800
Trisomy 10P
Ulnar deviated club hands, Rectovaginal fistula, Small for gestational age, Low voltage EEG, EEG ... ORPHA:171929
Kleefstra Syndrome 1
Tracheobronchomalacia, Mandibular prognathia, Everted lower lip vermilion, Persistence of primary... OMIM:610253
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Abnormality of dental eruption, High, narrow palate, Clinodactyly of the 5th finger... ORPHA:96092
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro... OMIM:212780
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Adenoma sebaceum, Sparse or absent eyelashes, Brittle hair, Delayed eruption... ORPHA:3353
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Patent duct... OMIM:616867
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short uvula, Short lingual frenulum, Short ribs, High palate, Bowing of the long bon... OMIM:614091
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Highly arched eyebrow, Sensorineural hearing impairment, Bifid distal phalanx... OMIM:618419
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Thin vermilion border, 2-3 toe syndactyly, Abnormality of the dentition, Short stature, Lymphopenia ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... ORPHA:79500
Bardet-Biedl Syndrome 1
High, narrow palate, Truncal obesity, Dental crowding, Hirsutism, High palate, Abnormality of the... OMIM:209900
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... OMIM:180700
4Q21 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Growth delay, Sh... ORPHA:238750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Nail dystrophy, Anemia, Hypokalemia, Hypocalcemia, Cachexia, Glossitis, Hypomagnesemia,... OMIM:175500
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Reduced bone mineral density, Cubitus valgus, Short stature, Downturned corners of mo... ORPHA:1185
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope... ORPHA:99889
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Occipital Horn Syndrome
Limited elbow extension, Long philtrum, Genu valgum, Decreased circulating ceruloplasmin concentr... OMIM:304150
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, High palate, Obesity, Splenomegaly, Lymphopenia, Long ph... OMIM:605309
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Femoral bowing, Metaphyseal irregularity, Joint hyperm... OMIM:618019
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Long philtrum, Genu valgum, Monkey wrench femoral neck, Clinodactyly of ... OMIM:618870
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermil... OMIM:615866
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, A... OMIM:617591
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Cleft palate, ... ORPHA:1318
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Proportionate short stature ORPHA:93283
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Growth delay... OMIM:619846
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:109120
Glutamine Deficiency, Congenital
Thin vermilion border, Short nose, Camptodactyly, Micromelia, Hyperammonemia, Flexion contracture... OMIM:610015
Cooper-Jabs Syndrome
Reduced bone mineral density, Proximal placement of thumb, Missing ribs, Short stature, Camptodac... ORPHA:1488
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Genitopatellar Syndrome
Knee flexion contracture, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short ... ORPHA:85201
Immunodeficiency 70
Recurrent sinusitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Growth delay, Failure to thrive in infancy, Decreased proportion of CD4-positi... OMIM:619510
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Stormorken Syndrome
Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombo... OMIM:185070
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed puberty, Delayed eruption of teeth, Oligodontia, Short stature, Hypodontia ORPHA:447896
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Lim... OMIM:619142
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma... OMIM:612782
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Short stature, Slender bui... ORPHA:364028
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Kagami-Ogata Syndrome
Retrognathia, Hepatomegaly, Hypoplasia of the maxilla, Micrognathia, Long fingers, Limb undergrow... OMIM:608149
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent fingertip pads, Joint hypermobility, Thickened helices, Curly hair, Hearing impairment,... OMIM:619950
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to... OMIM:206920
Hepatoerythropoietic Porphyria
Osteopenia, Erythrodontia, Osteoporosis, Hemolytic anemia, Abnormal circulating porphyrin concent... ORPHA:95159
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, High, narrow palate, Distal joint hypermobility, Elbow flexion contracture, Osteoporo... ORPHA:1900
Jeune Syndrome
Abnormal metaphysis morphology, Postaxial hand polydactyly, Micromelia, Short stature, Brachydact... ORPHA:474
Alg6-Cdg
Jaundice, Low-set ears, Shortening of all distal phalanges of the fingers, Failure to thrive, Bra... ORPHA:79320
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Abnormal vagina morphology ORPHA:2123
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Postnatal growth retardation, Joint hypermobility, Adducted thumb, Intrauterine growt... OMIM:616603
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Cl... ORPHA:440354
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Wilson Disease
Portal fibrosis, Splenomegaly, High nonceruloplasmin-bound serum copper, Joint hypermobility, Hep... OMIM:277900
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly, Alopecia ORPHA:100025
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Bone cyst, High palate, Furrowed tongue, Enlarge... ORPHA:201
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Decreased circulating IgG level, Sternocleidomastoid amyotrophy... OMIM:602668
Fanconi Anemia
Reduced bone mineral density, Abnormal femur morphology, Abnormal pinna morphology, Leukopenia, H... ORPHA:84
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hor... OMIM:614837
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ... OMIM:271665
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Intrauterine growth retardation, Overlapping toe, Narrow palate, Short stat... ORPHA:99843
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent sinusitis, T lymphocytopenia ORPHA:217390
Congenital Disorder Of Glycosylation, Type Iib
Retrognathia, Overlapping fingers, Hepatomegaly, High palate, Elevated circulating aspartate amin... OMIM:606056
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Premature loss of teeth, Osteoporosis, S... OMIM:305000
Sjogren-Larsson Syndrome
Short stature, Enamel hypoplasia, Flexion contracture OMIM:270200
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Failure to thrive, Syndactyly OMIM:226700
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio... ORPHA:227990
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Narrow philtrum, Abnormal metatarsal morph... ORPHA:163654
Adrenomyodystrophy
Reduced bone mineral density, Short stature, Failure to thrive, Primary adrenal insufficiency, He... ORPHA:977
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Mucolipidosis Type Ii
Postnatal growth retardation, Abnormal long bone morphology, Gingival overgrowth, Limitation of j... ORPHA:576
Monosomy 13Q34
Horizontal eyebrow, Obesity, Micrognathia, Hypercalcemia, Metrorrhagia ORPHA:96168
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Osteoporosis, Hypothyroidism, Failure to thri... ORPHA:254892
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Aspartylglucosaminuria
Hepatomegaly, Pathologic fracture, Vacuolated lymphocytes, Short stature, Joint hypermobility, Ma... OMIM:208400
Ataxia-Telangiectasia
Delayed puberty, Elevated circulating hepatic transaminase concentration, Short stature, Failure ... ORPHA:100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Oral ulcer, Acute pancreatitis, Lymphad... OMIM:618935
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Mend Syndrome
Limb hypertonia, Wide anterior fontanel, 2-3 toe syndactyly, Low-set ears, Abnormal auditory evok... ORPHA:401973
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Anemia, Osteoporosis, Growth delay, Enamel hypoplasia, Abnorma... ORPHA:79404
Prolidase Deficiency
Bilateral single transverse palmar creases, Reduced bone mineral density, Hepatomegaly, Genu valg... ORPHA:742
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79405
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Short finger, Clinodactyly of the 5th finger, Lower-limb joint contracture, Sing... ORPHA:459070
Xylt1-Cdg
Hepatomegaly, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Accelerated skele... ORPHA:370930
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Mandibular prognathia, High palate, Short stature, Small for gestatio... OMIM:262190
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Bone pain, Pathologic fracture OMIM:259900
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Enamel hypoplasia, Short sternum, Long phi... OMIM:312830
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Highly arched eyebrow, Dental crowding, Impulsivity, Joint hypermobility, Aggressi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Highly arched eyebrow, Dental crowding, Impulsivity, Joint hypermobility, Aggressi... ORPHA:353277
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Postnatal growth retardation, Retrognathia, Long philtrum, Reduced bone mineral density, Eclabion... OMIM:620510
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor, Maxillary lat... ORPHA:73223
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Hepatic ... OMIM:256810
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus ORPHA:99811
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Oral ulcer, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Microphthalmia, Lenz Type
Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption o... ORPHA:568
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Clinodactyly, Short philtrum, Camptodacty... OMIM:280000
Charge Syndrome
Polydactyly, Postnatal growth retardation, Delayed puberty, Abnormal tibia morphology, Clinodacty... ORPHA:138
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Recurrent pancreatitis, Hypercalcemia, Parat... OMIM:145001
Cranioectodermal Dysplasia 2
Retrognathia, Portal fibrosis, Short ribs, Cholestasis, Biliary cirrhosis, Everted lower lip verm... OMIM:613610
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Thick lower lip vermilion, Widely spaced teeth, Shor... OMIM:619297
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Rhizomelia, Mandibular prognathia, Broad thumb, Mesomelia, Metaphyseal widening, Ma... OMIM:612813
Acrocapitofemoral Dysplasia
Micromelia, Short stature, Short palm, Abnormal femoral neck morphology, Cone-shaped metacarpal e... ORPHA:63446
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Retrognathia, Disproportionate short stature, Anemia, Clinodactyl... ORPHA:2637
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Single transverse palmar crease, Hyperalaninemia, Decreased body weight, Osteoporos... OMIM:615273
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Short ribs, Tibial... ORPHA:96334
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio... ORPHA:227982
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Hypopigmenta... OMIM:214500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Single transverse palmar crease, Increased serum pyruvate, Limb undergrowth, Flexion contracture,... ORPHA:79243
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Hepatitis, Thick vermilion border ORPHA:363523
Kleefstra Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Tracheomalacia, Mandibular prognathia, Exa... ORPHA:261494
Autoinflammatory Disease, Systemic, X-Linked
Conical tooth, B lymphocytopenia, Hepatosplenomegaly, Osteomyelitis, Neutropenia OMIM:301081
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Sensorineural hearing impairment, Decreased circulating ant... OMIM:248500
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Sho... OMIM:259050
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, Abnormal pinna morphology, Aplasia of th... OMIM:194190
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Generalized amyloid deposition, Splenomegaly, Renal amyloidosis OMIM:105200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Narrow mouth, High palate, Multiple prenatal fractures, Flexion contracture, Microretrognathia, P... OMIM:616866
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Disproportionate short-limb short stature, Metaphyseal cupping, Bowin... ORPHA:85166
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Rhizomelia, Flared meta... OMIM:608940
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia ORPHA:428
Familial Mediterranean Fever
Amyloidosis, Hepatomegaly, Arthritis, Leukocytosis, Neutrophilia, Orchitis, Splenomegaly, Periton... OMIM:249100
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Hypocalcemia, In... OMIM:192430
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Thyroid lymphangiectasia, Hypoproteinemia, Pancreatic lymphangiectasis, High palate... OMIM:235255
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Long philtrum, Intrauterine growth retardation, Joint hypermobility, Long toe... ORPHA:508488
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Prader-Willi Syndrome Due To Translocation
Retrognathia, Head-banging, Everted lower lip vermilion, Bifid uvula, Wide mouth, Alveolar ridge ... ORPHA:177907
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, ... OMIM:617865
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Loose anagen hair, Myelofibrosis, Low-set ears, Sparse scalp hair, Cur... OMIM:607721
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Rhizomelia, Hip joint hypermobility, T... ORPHA:15
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased fertility, Clitoral hypertrophy, Hyperinsulinemia, Cystic angioma... OMIM:269700
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Abnormality of the endocrine system, Cachexia, Splenomegaly, Abnormal blood ion c... ORPHA:37042
Ctcf-Related Neurodevelopmental Disorder
Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Prolonged... ORPHA:363611
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... OMIM:180849
Wiedemann-Rautenstrauch Syndrome
Small earlobe, Short humerus, Intrauterine growth retardation, Long toe, Clinodactyly, Genu varum... OMIM:264090
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Imp... OMIM:201810
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, EEG with persistent abnormal rhythmic activity, Astrocytosis, V... ORPHA:282166
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Abnormal circulating thyroglobulin concentration, Pi... ORPHA:99832
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Micromelia, Short phalanx of finger, Increased skull ossification, Severe short... ORPHA:1422
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Jaundice, Hyperuricemia, Growth delay, Hypophosphatemia ORPHA:469
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypopla... OMIM:618727
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Neuroblastoma
Anemia, Lymphadenopathy, Bone pain, Thrombocytopenia, Weight loss, Pathologic fracture ORPHA:635
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Osteogenesis Imperfecta, Type Xx
Narrow palate, Retrognathia, Disproportionate short-limb short stature, Mandibular prognathia, Hi... OMIM:618644
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, H... ORPHA:1655
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia... ORPHA:300298
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Orofaciodigital Syndrome Type 1
Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip... ORPHA:2750
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral... OMIM:215150
Paget Disease Of Bone 6
Bone pain, Recurrent fractures, Osteoarthritis OMIM:616833
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Narrow mouth, Growth delay, Enamel hypoplasia, Flexion contracture, Oral mucosal blisters OMIM:226600
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Progressive hearing impairment, Decr... OMIM:616113
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Opitz Gbbb Syndrome
Tracheomalacia, Hypodontia, High palate, Ankyloglossia, Short stature, Micrognathia, Cleft palate... ORPHA:2745
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Cystic angiomatosis of bone, Decrea... OMIM:608594
Steatocystoma Multiplex
Natal tooth OMIM:184500
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs... OMIM:615873
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Micrognathia, Natal tooth OMIM:617802
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Abnormally ossified vertebrae, Bowing of the long bone... ORPHA:3035
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Clinodactyly of the 5th finger, Delayed eruption of teeth, Camptodactyly, Failure to... OMIM:247200
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Increased circu... OMIM:218700
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... OMIM:250220
Disabling Pansclerotic Morphea Of Childhood
Oral ulcer, Joint contracture, Neutropenia, Lymphopenia OMIM:620443
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Increased susceptibility to fractures ORPHA:216866
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Cystic Fibrosis
Osteopenia, Cirrhosis, Decreased body mass index, Male infertility, Osteoporosis, Sinusitis, Fail... ORPHA:586
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Mandibular prognathia, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Severe intrauterine growth retardation, Short humerus, Joint hypermobility, Intraut... ORPHA:3455
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, High palate, Short stature, Arachnodactyly, Abnormality of neutroph... ORPHA:2720
Vipoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypokalemia, Normoc... ORPHA:97282
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Hepatomegaly, Short clavicles, Short ribs, Postaxial hand polydactyly, Short... OMIM:617088
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Narrow mouth, Bowing of the long bones, Micromelia, Mi... OMIM:224410
Incontinentia Pigmenti
Delayed eruption of teeth, Conical tooth, Oligodontia, Leukocytosis, Short stature, Hypodontia, E... OMIM:308300
Restrictive Dermopathy
Osteopenia, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossification, Arthro... ORPHA:1662
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility ORPHA:171866
Intellectual Developmental Disorder, Autosomal Dominant 54
Widely spaced teeth, Dental crowding, Short stature, Growth delay, Small for gestational age, Del... OMIM:617799
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline cleft of the upper lip, Mandibula... ORPHA:1908
Snijders Blok-Campeau Syndrome
Widely spaced teeth, High palate, Enamel hypoplasia, Joint hypermobility, Taurodontia OMIM:618205
Williams Syndrome
Abnormal circulating lipid concentration, Everted lower lip vermilion, Microdontia, Joint stiffne... ORPHA:904
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Man... ORPHA:87
Cerebrotendinous Xanthomatosis
Abnormal circulating cholesterol concentration, Cholelithiasis, Osteoporosis OMIM:213700
21Q22.11Q22.12 Microdeletion Syndrome
Postnatal growth retardation, Thick lower lip vermilion, Anemia, Cone-shaped epiphyses of the pha... ORPHA:261323
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Abnormal auditory evoked potential... ORPHA:529808
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Short stature, Delayed eruption of teeth OMIM:616029
Non-Acquired Panhypopituitarism
Osteopenia, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulatio... ORPHA:90695
Marfan Syndrome
Osteopenia, Limited elbow movement, Retrognathia, Reduced bone mineral density, Abnormal zygomati... ORPHA:558
Congenital Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Ovarian cyst, Gingival bleeding ORPHA:327
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Hepatomegaly, Abnormal T cell count, Abnormal B cell count OMIM:613496
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia, Hyperparathyroidism OMIM:239199
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Osteogenesis Imperfecta, Type Xv
Joint hypermobility, Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature OMIM:615220
Alg9-Cdg
Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, Rhizomelia, Periportal fi... ORPHA:79328
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Rhizomelia, Wide anterior fontanel, Femoral bowing, Tibial bowing, Hearin... OMIM:616482
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Vertebral fusion, Hypoplasia of... ORPHA:3109
Microlissencephaly-Micromelia Syndrome
Bilateral single transverse palmar creases, Short nose, Abnormal circulating calcium-phosphate re... ORPHA:50810
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Pulmonary artery atresia, Narrow mouth, Failure to thrive, Coar... ORPHA:3426
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Tri... OMIM:616894
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the hand, High palate, Osteoporosis, Short stature, Arachnodactyly, Mi... ORPHA:536545
Microphthalmia, Syndromic 1
Orofacial cleft, High, narrow palate, Radial deviation of finger, Tooth malposition, Dental crowd... OMIM:309800
Lethal Congenital Contracture Syndrome 10
Narrow palate, Stiff neck, Femoral bowing, High palate, Hypoplasia of the thymus, Short long bone... OMIM:617022
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Dislocated radial head, Short metac... OMIM:609945
Meckel Syndrome, Type 1
Radial deviation of finger, Wide mouth, Splenomegaly, Syndactyly, Intrauterine growth retardation... OMIM:249000
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Distal lower limb m... ORPHA:101085
3Mc Syndrome 2
Postnatal growth retardation, Limited elbow movement, Caudal appendage, High palate, Cleft upper ... OMIM:265050
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Single transverse palmar crease, Tapered finger, Failure to thrive, Micro... ORPHA:444072
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Idiopathic Trachyonychia
Amyloidosis, Autoimmune thrombocytopenia, Nail dystrophy, Patchy alopecia ORPHA:79153
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Icf Syndrome
Anemia, Protruding tongue, Short stature, Micrognathia, Lymphopenia, Abnormality of neutrophils, ... ORPHA:2268
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Oligodontia, Choles... OMIM:607626
Geleophysic Dysplasia 3
Limited elbow movement, Hepatomegaly, Short foot, Short stature, Limb undergrowth, Thick vermilio... OMIM:617809
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Acrofrontofacionasal Dysostosis
Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Micromelia, Short s... ORPHA:1784
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Cleft soft palate, Calcaneal epiphy... OMIM:117650
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Immunodeficiency 23
High palate, Failure to thrive, Lymphopenia, Joint hypermobility, Eosinophilia, Abscess, Hemolyti... OMIM:615816
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Micromelia, Ulnar dev... OMIM:612651
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Khan-Khan-Katsanis Syndrome
Anemia, Triangular mouth, Postaxial polydactyly, Failure to thrive, Micrognathia, Patent ductus a... OMIM:618460
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Dental crowding, Osteoporosis, Arachnodactyly, Joint hypermobility, Palmoplantar cuti... OMIM:225400
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo... OMIM:613573
Hypoplasminogenemia
Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Abnormality of the ovary,... ORPHA:722
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
3P25.3 Microdeletion Syndrome
High, narrow palate, Proximal placement of thumb, Short philtrum, Mandibular prognathia, Tapered ... ORPHA:435638
Pachyonychia Congenita
Advanced eruption of teeth, Angular cheilitis, Failure to thrive, Natal tooth, Oral leukoplakia, ... ORPHA:2309
Coffin-Siris Syndrome
Postnatal growth retardation, Thick lower lip vermilion, Delayed eruption of teeth, Short 5th fin... ORPHA:1465
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, Long philtrum, High, narrow palate, Hypoparathyroidism, Prematu... ORPHA:369837
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia, W... ORPHA:90024
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Abnormality of the palmar creases, Mandibular prognathia, Thyroid hypoplasia, Tap... ORPHA:521445
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Disproportionate short-limb short stature, Micromelia, Joint stif... ORPHA:2655
Adnp Syndrome
Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Abnormal finger m... ORPHA:404448
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Thick lower lip vermilion, Pheochromocytoma, High palate, Elevated circulati... OMIM:162300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Acromesomelic Dysplasia 1
Limited elbow extension, Short nose, Hypoplasia of the radius, Broad finger, Short metatarsal, Di... OMIM:602875
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ... ORPHA:3144
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... OMIM:601356
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ... ORPHA:158687
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Short philtrum, Hypocalcemia, Failure to thrive, Small scrotum, Cryptorchidism, Micr... OMIM:607143
Phocomelia, Schinzel Type
Short nose, High, narrow palate, Disproportionate short stature, Hypoplasia of the radius, Fibula... ORPHA:2879
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Short philtrum, Gingival overgrowth, High palate, Failure to thrive... ORPHA:435628
Immunodeficiency 43
Lung abscess, Hypoplasia of the ulna, B lymphocytopenia, Radial bowing, Reduced natural killer ce... OMIM:241600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Non-Functioning Paraganglioma
Episodic hyperhidrosis, Paraganglioma of head and neck, Hypercalcemia, Weight loss, Paraganglioma ORPHA:94080
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ... ORPHA:319675
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Monosomy 9Q22.3
Polydactyly, Orofacial cleft, Large for gestational age, Odontogenic keratocysts of the jaw, Dela... ORPHA:77301
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Mesomelic short stature, Microdontia, Micromelia, Short stature... ORPHA:1765
Noonan Syndrome 14
Limited elbow extension, High, narrow palate, Short stature, Wide mouth, Thick vermilion border, ... OMIM:619745
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Q Fever
Amyloidosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymph... ORPHA:781
Hereditary Sensory And Autonomic Neuropathy Type 1
Pathologic fracture, Limb pain, Osteomyelitis ORPHA:36386
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Enlarged polycystic ovar... ORPHA:64739
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Joint stiffness, Failure to thrive, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia... OMIM:615934
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Hypohidrosis, Hypothyroidism, Generalized hirsutism ORPHA:1563
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Hypercalcemia, Weight loss OMIM:143880
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Ring Chromosome 10 Syndrome
Thin vermilion border, Hypocalcemia, Cachexia, Micrognathia, Long philtrum ORPHA:1438
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent sinusitis, Lymphopenia, Neu... OMIM:614868
Localized Junctional Epidermolysis Bullosa
Abnormality of dental color, Enamel hypoplasia, Dental enamel pits, Limb joint contracture ORPHA:251393
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Somatostatinoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypochromic microcy... ORPHA:97283
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hypoplasia of the premaxilla, Long philt... ORPHA:1106
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Cousin Syndrome
Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Talipes equinovarus, Dislocated radi... OMIM:260660
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Lacrimal gland aplasia, Hypoplasia of the uterus, Decreased circ... ORPHA:572333
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Prolonged neonatal... OMIM:210710
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Yunis-Varon Syndrome
Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ... ORPHA:3472
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Osteoporosis of ve... ORPHA:95494
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Williams-Beuren Syndrome
Microdontia, Early onset of sexual maturation, Long philtrum, Joint hypermobility, Intrauterine g... OMIM:194050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Limitation of joint mobility, Micromelia, Short stature, Brachyda... ORPHA:93274
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar crease, Tapered finger, Sho... OMIM:616202
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Cervical neoplasm, Abnormal tongue morphology, Ph... ORPHA:653
Glucagonoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Normochromic anemia... ORPHA:97280
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Dysphagia, Abnorm... ORPHA:95712
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Clinodactyly of the 5th finger, Rhizomelia, Wid... OMIM:228520
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Upper limb musc... ORPHA:206448
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Anterior tibial bowing, Dislocated ... OMIM:605274
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Enteroviral hepatitis, Abnormal T cell count, Sinusitis, Delayed skeletal matura... OMIM:307200
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Failure to ... OMIM:229600
Genetic Recurrent Myoglobinuria
Hyperkalemia, Proximal muscle weakness in upper limbs, Hypocalcemia, Hyperphosphatemia, Highly el... ORPHA:99845
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:191
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Sinusitis, Pur... OMIM:613179
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Bifid uvula, Br... OMIM:620186
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Oral leukoplakia, Intrauterine grow... OMIM:620133
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Lymphopenia,... OMIM:616100
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... ORPHA:93322
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Limitati... OMIM:211350
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Fibrochondrogenesis 2
Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Hypoplastic ilia, Hypoplastic ischi... OMIM:614524
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Adducted thumb, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171430
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditor... ORPHA:99027
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Oral ulcer, Arthritis, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopath... ORPHA:93552
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Intrauterine ... ORPHA:2753
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... OMIM:618183
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla... OMIM:129400
Microphthalmia, Syndromic 9
Multilobulated spleen, Short stature, Micrognathia, Hypoplastic spleen, Severe short stature, Pat... OMIM:601186
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating hepatic transaminase concentration, Arthritis, Leukocytosis, Geog... ORPHA:247353
Dpagt1-Cdg
Hepatomegaly, Anemia, Camptodactyly, Osteoporosis, Failure to thrive, Arachnodactyly, Flexion con... ORPHA:86309
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Vici Syndrome
Postnatal growth retardation, Everted upper lip vermilion, High palate, Median cleft palate, T ly... OMIM:242840
Developmental And Epileptic Encephalopathy 89
Cleft palate, Limb undergrowth, Flexion contracture, Microretrognathia, Smooth philtrum, Long phi... OMIM:619124
Acrocephalopolydactylous Dysplasia
Short nose, Hepatomegaly, Postaxial hand polydactyly, Micromelia, Craniosynostosis, Hepatic fibro... OMIM:200995
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sandal gap, B lymphocytopenia, Malar prominence, 2-3 toe syndactyly,... OMIM:251260
Blue Rubber Bleb Nevus
Abnormality of the liver, Pathologic fracture, Thrombocytopenia, Iron deficiency anemia OMIM:112200
Mosaic Trisomy 9
Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Abnormal liver lobulation, Elbow dis... ORPHA:99776
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Abnormal p... OMIM:207410
Fusariosis
Lung abscess, Arthritis, Brain abscess, Granuloma, Sinusitis, Abnormality of the spleen, Peritoni... ORPHA:228119
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Knee osteoarthritis, High palate, Osteoporosis, Camptodactyly of finger, Arachnodac... ORPHA:284984
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... ORPHA:91351
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Retrognathia, Anemia, Abnormality of the endocrine system, Osteoporosis, Short statur... ORPHA:438213
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Oral ulcer, Parotitis, Increased B cell count, Cholestasis, Leuko... OMIM:620376
Familial Mediterranean Fever
Amyloidosis, Pancreatitis, Lymphadenopathy, Arthritis, Leukocytosis, Acute hepatic failure, Orchi... ORPHA:342
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd... OMIM:609638
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Dental crowding, Thyroid hypoplasia, Impulsivity, Unicornuate uterus, Agen... OMIM:619503
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Short metatarsal, Mesomelic short stature, Metacarpal synostosis, Dis... OMIM:600383
Grfoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adr... ORPHA:97261
Ppoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adr... ORPHA:97278
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Oral leukoplakia, Abnormally low T cell r... OMIM:619767
Hydrolethalus
Retrognathia, Gingival cleft, Postaxial hand polydactyly, Micromelia, Micrognathia, Bifid uvula, ... ORPHA:2189
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Thin upper lip vermilion, Microdontia OMIM:601005
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, P... OMIM:615688
Cornelia De Lange Syndrome
Delayed puberty, Proximal placement of thumb, Oligodactyly, Joint stiffness, Delayed skeletal mat... ORPHA:199
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Apc-Related Attenuated Familial Adenomatous Polyposis
Supernumerary tooth, Neoplasm of the pancreas, Adrenocortical adenoma, Odontoma, Papillary thyroi... ORPHA:247806
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Accelerated skeletal maturation, Bowing of the long bones,... ORPHA:199276
Loeys-Dietz Syndrome 2
Retrognathia, Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Arachn... OMIM:610168
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Disproportionate short-limb short stature, Metaphyseal cuppi... OMIM:250420
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Bowing of the long bones, Short stature, Flared radial metaphysis, Broad tibial ... ORPHA:85170
Fanconi Anemia, Complementation Group L
Anemia, Absent radius, Microtia, Aplasia of the uterus, Low-set ears, Bilateral talipes equinovar... OMIM:614083
Bartsocas-Papas Syndrome 1
Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar crease, Absent radius, In... OMIM:263650
Thanatophoric Dysplasia, Type Ii
Flared metaphysis, Short ribs, Micromelia, Brachydactyly, Metaphyseal irregularity, Small abnorma... OMIM:187601
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Multiple suture craniosynostosis, Splenomegaly, Joint hypermobil... ORPHA:567
Cutis Marmorata Telangiectatica Congenita
Orofacial cleft, Reduced bone mineral density, Finger syndactyly, Abnormality of the upper limb, ... ORPHA:1556
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Failure to thrive... ORPHA:365
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ... OMIM:304120
Coffin-Siris Syndrome 1
Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Microdontia, Delayed ... OMIM:135900
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Hypospadias, Talipes equinovarus, Abnormal vagina morpholog... OMIM:236680
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Iron d... ORPHA:358
Focal Dermal Hypoplasia
Short metacarpal, Split foot, Joint hypermobility, Midclavicular hypoplasia, Short finger, Short ... OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Arachnodactyly, Delayed skeletal maturation, Bifid uvula, Syndactyly, Adducted t... ORPHA:261537
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, B... OMIM:270400
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint hypermobility, Recurrent fractures, Short stature OMIM:619120
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Re... OMIM:300755
17Q11 Microdeletion Syndrome
Osteopenia, Delayed puberty, Elevated circulating parathyroid hormone level, Abnormality of the s... ORPHA:97685
Pseudoleprechaunism Syndrome, Patterson Type
Genu valgum, Delayed pubic bone ossification, Metaphyseal sclerosis, Hirsutism, Flat acetabular r... ORPHA:2976
Developmental Malformations-Deafness-Dystonia Syndrome
Orofacial cleft, Femoral retroversion, Hypoplastic scapulae, Micromelia, Short stature, Macroglossia ORPHA:79107
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ... ORPHA:369950
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Short nose, Anterior pituitary hy... OMIM:613457
Digeorge Syndrome
Right aortic arch with mirror image branching, Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal ... OMIM:188400
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur... OMIM:620232
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Anemia, Decreased body weight, Leukocytosis, Hyperhidrosis, Thrombocytop... ORPHA:340
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Deviation of the hallux, Postaxial hand polydactyly, Bilateral cryptorchidis... ORPHA:434179
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t... OMIM:209885
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Chronic sinusitis, Polysplenia OMIM:620642
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Lymphopenia, Abn... OMIM:242700
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Short ribs, Micromelia, Postaxial polydactyly, Syndactyly, Brachydactyl... OMIM:617895
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Preaxial polydactyly, Short ribs, Postaxial hand polydactyly, Cryptorchidism... OMIM:615948
Gm1 Gangliosidosis Type 1
Acetabular dysplasia, Broad long bone diaphyses, Gingival overgrowth, Short long bone, Broad meta... ORPHA:79255
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Femoral bowing, Split hand, Bowing of the long bones, Short femur... ORPHA:1860
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia, Torticollis OMIM:314300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of... ORPHA:276621
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wi... OMIM:620076
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Branchiootorenal Syndrome 1
Euthyroid goiter, Increased overbite, High palate, Microdontia, Bifid uvula, Cleft palate OMIM:113650
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, I... OMIM:601678
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractures, Osteomye... OMIM:608654
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia, Growth delay, Short stature, Hypothyroidism, Macroglossia ORPHA:95720
Carney Complex, Type 1
Thyroid carcinoma, Red hair, Pheochromocytoma, Hirsutism, Palatine myxoma, Pituitary adenoma, Ele... OMIM:160980
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Conical tooth, Ab... ORPHA:1071
Schisis Association
Cleft palate, Unilateral cleft lip, Small for gestational age, Micromelia ORPHA:63862
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Thyroid hypoplasia, Broad thumb, Bifid uvula, Intrauterine g... ORPHA:672
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Failure to thrive, Acute... OMIM:208900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral hypoplasia of pectoralis major muscle, Unilateral brachydactyly, Supernumerary nipple,... ORPHA:1521
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Short stature, Failure to thrive, Enamel hypoplasia, Bifid uvula, W... OMIM:615802
Craniopharyngioma
Delayed puberty, Postnatal growth retardation, Proportionate short stature, Growth delay, Obesity... ORPHA:54595
Interstitial Cystitis
Abnormal labia morphology, Elevated circulating C-reactive protein concentration, Abnormal vagina... ORPHA:37202
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short ribs, Narrow mouth, Micromel... ORPHA:2021
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Intrauterin... OMIM:139210
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Micrognathia, Knee flexion contracture, Overlapping fingers, Absent uvula OMIM:619708
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Meckel Syndrome 14
Aplasia of the uterus, Low-set ears, Postaxial hand polydactyly, Bowing of the long bones, Decrea... OMIM:619879
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, High palate, Hyponatrem... OMIM:617913
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Chronic active hepatitis, Cholelithiasis, Asplenia OMIM:240300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Abnormal jaw morphology, Arachnodactyly, Delayed skeletal maturation, Bifid uvul... ORPHA:261552
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Undetectable electroretinogram, Polymicrogyria, Type II lissencephaly, Decreased l... OMIM:253280
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Short philtrum, Hypocalcemia, Hyperextensibility of the finger joints, Hyper... ORPHA:163979
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Wide ... ORPHA:438216
Grange Syndrome
Decreased body weight, Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, Incre... OMIM:602531
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypoplasia of the primary teeth, Primary hypothyroidism, Agenesis of perman... OMIM:243800
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of... ORPHA:29072
Sotos Syndrome
Ankle flexion contracture, Delayed eruption of permanent teeth, Joint hypermobility, Bilateral ca... ORPHA:821
Charge Syndrome
Delayed puberty, Dysphagia, Lymphopenia, Decreased response to growth hormone stimulation test, E... OMIM:214800
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy, Hypoparathyroidism ORPHA:746
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hyperhidrosis, Hypercalcemia OMIM:171420
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Joi... OMIM:616881
Arboleda-Tham Syndrome
Sandal gap, Upper limb amyotrophy, Wide mouth, Intrauterine growth retardation, Craniosynostosis,... OMIM:616268
Phace Association
Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial stenosis, Lingual thyroid OMIM:606519
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, Delayed eruption of teeth, High palate, Epiphyseal dysplasia, Open mouth, Deep phil... ORPHA:1675
Pmm2-Cdg
Retrognathia, Reduced thyroxin-binding globulin, Wide mouth, Long philtrum, Impaired neutrophil c... ORPHA:79318
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Bi... OMIM:268300
Loeys-Dietz Syndrome 3
Osteopenia, Retrognathia, Hip osteoarthritis, Knee osteoarthritis, High palate, Camptodactyly, Os... OMIM:613795
Poland Syndrome
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Short ribs, Aplasia/Hypopla... ORPHA:2911
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Large for gestational age, Spina bifida occulta, Sensorineural hearing... ORPHA:500095
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cowden Syndrome 7
Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter, Hashimoto thyroiditis OMIM:616858
Mowat-Wilson Syndrome
Dental crowding, Everted lower lip vermilion, Delayed skeletal maturation, Bifid uvula, Syndactyl... ORPHA:2152
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Failure to thrive, Recurrent sinusitis, Neutropenia OMIM:601495
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Floating-Harbor Syndrome
Dislocated radial head, Short metacarpal, Microdontia, Delayed skeletal maturation, Wide mouth, C... ORPHA:2044
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Craniofacioskeletal Syndrome
Hypospadias, Short philtrum, Hypocalcemia, Interrupted aortic arch, Hypoplastic frontal sinuses, ... OMIM:300712
Radio-Renal Syndrome
Retrognathia, High, narrow palate, Hypoplasia of the radius, Micromelia, Short palm, Downturned c... ORPHA:3015
Tetrasomy 9P
Jaundice, Clinodactyly of the 5th finger, Abnormal earlobe morphology, Biliary atresia, Myositis,... ORPHA:3310
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Arthritis, Increased circulating myelocyte count, Elevated circulating creatine kin... ORPHA:36234
Immunodeficiency 55
Postnatal growth retardation, Lymphadenopathy, Short stature, Lymphopenia, Intrauterine growth re... OMIM:617827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Growth delay, Sideroblastic anemia, Splenomegal... OMIM:616084
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Oral ulcer, Arthritis, W... OMIM:301074
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Intrauterine... OMIM:619573
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Breast aplasia, 3-4 finger cutaneous syndactyly, Alopecia, Hypopl... ORPHA:69085
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Cleft palate, Natal tooth, Short philtrum OMIM:617337
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Narrow... ORPHA:2166
Barber-Say Syndrome
Failure to thrive, Wide mouth, Delayed eruption of teeth ORPHA:1231
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Thick lower lip vermilion, Mesiodens, Abnormal social behavior, Narrow mouth, Long philtrum, Aggr... ORPHA:314647
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth OMIM:612843
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Absent circulating B cells OMIM:619693
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... OMIM:619777
Cockayne Syndrome Type 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Enamel hypoplasia, Carious... ORPHA:90324
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
C Syndrome
Bilateral single transverse palmar creases, Thin vermilion border, Short nose, Clinodactyly of th... ORPHA:1308
Lacrimoauriculodentodigital Syndrome 3
Widely spaced teeth, Enamel hypoplasia, Carious teeth, Partial duplication of thumb phalanx, Shor... OMIM:620193
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Liver Disease, Severe Congenital
Nail dystrophy, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, ... OMIM:619991
Pachyonychia Congenita 2
Natal tooth, Angular cheilitis, Oral leukoplakia OMIM:167210
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone... OMIM:613091
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Becker Nevus Syndrome
Upper limb asymmetry, Abnormal tibia morphology, Supernumerary nipple, Micromelia ORPHA:64755
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Alopecia of scalp, Anemia, Osteolytic defects of ... OMIM:130050
Aa Amyloidosis
Amyloidosis, Hepatomegaly, Cholestasis, Hypothyroidism, Renal amyloidosis, Adrenal insufficiency ORPHA:85445
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis, Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physi... OMIM:105210
Xfe Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Cachexia, Premature loss of teeth, Ename... OMIM:610965
Brittle Cornea Syndrome 2
Joint hypermobility, Recurrent fractures OMIM:614170
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy... ORPHA:2502
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth OMIM:620114
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Short phalanx o... OMIM:600092
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Thyroiditis, Abnormality of the sub... ORPHA:79078
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, A... ORPHA:3404
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Decreased body weight, Short sta... OMIM:266270
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Hypoplasia of the thymus, Intrauterine growth ... ORPHA:84064
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Disproportionate s... ORPHA:93271
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Premature loss of teeth, Multinodular goiter, Alopecia OMIM:618373
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Sinusitis, Lympho... ORPHA:51636
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor, Bilateral cryptorchidism ORPHA:466722
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Familial Multinodular Goiter
Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm ORPHA:276399
Lacrimoauriculodentodigital Syndrome
Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radius, Abnor... ORPHA:2363
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Penoscrotal hypospadias, Accessory spleen, Tracheomalacia, 2-3 t... OMIM:618280
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anhidrosis, Throm... ORPHA:466650
Lacrimoauriculodentodigital Syndrome 1
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... OMIM:149730
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia, Delayed eruption of primary teeth OMIM:300952
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Palmoplantar hyperkeratosis, Hypodo... OMIM:257980
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Chromosome 17Q12 Deletion Syndrome
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, H... OMIM:614527
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, C... ORPHA:51608
Pheochromocytoma
Pheochromocytoma, Hyperhidrosis, Hypercalcemia, Renal artery stenosis OMIM:171300
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Nail dystrophy, Finger joint hypermobility, Cutaneous macular amyloidosis OMIM:615225
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... ORPHA:1519
Neu-Laxova Syndrome 1
Rocker bottom foot, Thick lower lip vermilion, Swollen lip, Radial deviation of finger, Finger sy... OMIM:256520
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Disproportionate short-limb short stature, Bowed humerus, Short lingual fren... OMIM:619479
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Palmoplantar keratoderma, Failure to thrive, Cleft lip, Notched primary central incisor OMIM:620519
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, AA amyloidosis, Hepatic amyloidosis, Cervical lymphadenopathy, Oligoarthr... OMIM:142680
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Cornelia De Lange Syndrome 6
Short nose, Clinodactyly of the 5th finger, Intrauterine growth retardation, Arachnodactyly, Shor... OMIM:620568
Phace Syndrome
Hypothyroidism, Coarctation of aorta, Aortic root aneurysm, Ectopic thyroid ORPHA:42775
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Multinodular goiter, Cervix cancer OMIM:620189
Okamoto Syndrome
Polydactyly, Severe postnatal growth retardation, Abnormal helix morphology, Low-set ears, Extens... ORPHA:2729
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia OMIM:610706
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Bifid scrotum, Broad thu... OMIM:107480
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Pancreati... OMIM:263520
Proximal Renal Tubular Acidosis
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Short stature, Failure to thrive, Grow... ORPHA:47159
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Long philtrum, Hair-pulling, Nail-biting, Joint hypermobility, Hypocalcemia, Small scrotum, Mandi... OMIM:620330
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Sensorineural hearing impairment, Aplasia of the uteru... OMIM:146255
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Aplasia of the vagina, Facial hypotonia, Optic nerve hypoplasia, ... ORPHA:457284
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Pallister-Killian Syndrome
Everted lower lip vermilion, Bifid uvula, Wide mouth, Long philtrum, Alveolar ridge overgrowth, H... OMIM:601803
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Peters Plus Syndrome
Disproportionate short-limb short stature, Wide mouth, Intrauterine growth retardation, Long phil... ORPHA:709
Primary Sjögren Syndrome
Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Arthritis, Par... ORPHA:289390
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Septic ar... ORPHA:544482
Genitopatellar Syndrome
Knee flexion contracture, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Hypoplastic... OMIM:606170
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Broad eyebrow, Clubbing, Hypohidrosis, Failure to thrive in infancy, Front... OMIM:301220
Autosomal Recessive Cutis Laxa Type 1
Pathologic fracture, Joint hypermobility, Intrauterine growth retardation, Hip dislocation ORPHA:90349
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Reynolds Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lip telangiectas... OMIM:613471
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Tooth agenesis, Palmar hyper... OMIM:150400
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Short long bone, Polysplenia, Asplenia, Congenital hip dislocation... OMIM:306955
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Short ribs, Micromelia, Postaxial polydactyly, Cleft palate, Accessory oral... OMIM:616546
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Addictive alcohol use ORPHA:31826
Fraser Syndrome
Orofacial cleft, Finger syndactyly, Dental crowding, High palate, Cutaneous syndactyly, Cleft upp... ORPHA:2052
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Paraproteinemia,... ORPHA:439232
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Norrie Disease
Optic atrophy, Delayed puberty, Erectile dysfunction, Sensorineural hearing impairment, Abnormal ... ORPHA:649
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Congenital Disorder Of Glycosylation, Type Iim
Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ... OMIM:300896
Mowat-Wilson Syndrome
Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Short stature, Cleft palate, P... OMIM:235730
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hyperaldosteronism, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Microtia, Bifid uterus, Overfolded helix... OMIM:617466
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Amyloidosis, Finnish Type
Orthostatic hypotension, Cardiac amyloidosis, Optic neuropathy, Generalized amyloid deposition, R... OMIM:105120
Vascular Ehlers-Danlos Syndrome
Protruding ear, Hypospadias, Uterine rupture, Talipes equinovarus, Aplasia/Hypoplasia of the earl... ORPHA:286
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia, Patent ductus arteriosus OMIM:618458
Loeys-Dietz Syndrome
Camptodactyly of finger, Arachnodactyly, Joint hypermobility, Craniosynostosis, Uterine rupture ORPHA:60030
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf... ORPHA:322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia, Block vertebrae, Vertebr... OMIM:271520
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Hearing impairment, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Csf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csf1.

No publications found that use IMPC mice or data for Csf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Csf1tm44954(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Csf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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