Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin |
OMIM:617571 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:113800 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:607936 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:620148 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm... |
ORPHA:530838 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:101900 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin |
OMIM:618084 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orth... |
OMIM:612281 |
Anencephaly 2 |
|
Anencephaly |
OMIM:619452 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis |
OMIM:607602 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, White scaling skin |
OMIM:604777 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... |
ORPHA:1756 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida |
ORPHA:64754 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Honeycomb palmoplantar hyperkerat... |
ORPHA:79395 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Microcephaly |
OMIM:601355 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling... |
OMIM:616295 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... |
ORPHA:1908 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... |
ORPHA:2570 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:613943 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scal... |
ORPHA:100976 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Bazex Syndrome |
|
Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Scaling skin |
ORPHA:166113 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90158 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Bleeding with min... |
ORPHA:79503 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures |
ORPHA:36913 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse l... |
ORPHA:3406 |
Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
Mal De Meleda |
|
Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Epidermal acanthosis, Palmoplantar kerato... |
ORPHA:87503 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:133200 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... |
OMIM:300918 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase |
OMIM:604484 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... |
ORPHA:2199 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Decreased circulating ceruloplasmin concentrati... |
ORPHA:48818 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Congestive heart... |
OMIM:605676 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node |
OMIM:604864 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology, Hyperkeratotic papule |
ORPHA:79147 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis, Psoriasiform lesion, Scaling skin |
ORPHA:284426 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Spina bifida |
ORPHA:1104 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... |
ORPHA:555905 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... |
OMIM:239000 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Hydrolethalus |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Absent septum pellucidum |
ORPHA:2189 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:610227 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer |
ORPHA:312 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Abdominal pain, Di... |
ORPHA:2070 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Ichthyosis With Confetti |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:609165 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... |
ORPHA:63259 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Centrifugal Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90156 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia |
OMIM:618970 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Non-Functioning Paraganglioma |
|
Tremor, Hypertensive retinopathy, Hypercalcemia |
ORPHA:94080 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia |
OMIM:236500 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Palmoplantar keratoderma, Scaling skin, Dry skin |
OMIM:618373 |
Darier-White Disease |
|
Enlargement of parotid gland, Pruritus, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies |
ORPHA:1327 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Pemphigus Foliaceus |
|
Skin vesicle, Erythema, Scaling skin, Acantholysis |
ORPHA:79481 |
Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... |
ORPHA:1393 |
Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94089 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive b... |
OMIM:247100 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Naxos Disease |
|
Subungual hyperkeratosis, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac... |
OMIM:601214 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... |
OMIM:148700 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin |
OMIM:609180 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Pruritus, Malabsorption |
ORPHA:79301 |
Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis |
OMIM:184400 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Synophrys, Meni... |
ORPHA:894 |
Masa Syndrome |
|
Kyphosis, Hydrocephalus, Hyperlordosis |
OMIM:303350 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormality of the orbital region... |
ORPHA:251992 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Horner syndrome |
OMIM:106070 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Scoliosis |
ORPHA:2128 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... |
ORPHA:94093 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degenera... |
OMIM:520000 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:613982 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Hyperkeratosis, ... |
OMIM:602540 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Cole Disease |
|
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... |
OMIM:615522 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Scaling skin, Skin ulcer |
ORPHA:454831 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties |
OMIM:620368 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615022 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Cleft palate, Impaired myocardial contractility, ... |
ORPHA:158687 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Cutaneous Mastocytoma |
|
Erythema, Scaling skin |
ORPHA:79455 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure... |
ORPHA:251004 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Classic Mycosis Fungoides |
|
Hyperkeratosis, Erythema, Dry skin, Skin ulcer |
ORPHA:2584 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal ma... |
OMIM:243150 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Faci... |
ORPHA:293173 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis |
ORPHA:79151 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Pterygium, Abnormal intestine morphology |
ORPHA:525 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1 |
OMIM:102510 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... |
OMIM:619208 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:616546 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171420 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions, Const... |
OMIM:602248 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... |
ORPHA:66637 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic dermatitis, Joi... |
ORPHA:2796 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Tethered cord, Myelomeningocele, Meni... |
OMIM:600145 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Sudden cardia... |
ORPHA:537 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Spina bifida |
ORPHA:1120 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Entropion, Myocardial in... |
ORPHA:36426 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate |
ORPHA:217 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:79444 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, ... |
ORPHA:779 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column |
OMIM:600776 |
Warty Dyskeratoma |
|
Abnormal bleeding, Neoplasm of the tongue, Acantholysis |
ORPHA:69745 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:93325 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Vertebral wedging |
OMIM:617719 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Skin rash, Abdominal pain, Periorbital edem... |
OMIM:142680 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ... |
ORPHA:2635 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Chilblain Lupus |
|
Hyperkeratosis, Skin ulcer |
ORPHA:90280 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... |
OMIM:611890 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia |
ORPHA:2611 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... |
ORPHA:573278 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... |
OMIM:603546 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hy... |
ORPHA:199299 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis, Psoriasiform lesion |
ORPHA:163525 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Intrauterine growth retardation, Kyphosis |
OMIM:618237 |
Diabetic Embryopathy |
|
Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, High, narrow palate, Synophrys, Hyd... |
OMIM:613776 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst... |
ORPHA:79443 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Scoliosis, Spina bifida, Short neck |
OMIM:616038 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Kyphosis, Short neck |
OMIM:618393 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... |
ORPHA:79430 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:85174 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Retinopathy |
ORPHA:213 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly |
ORPHA:887 |
Trisomy 20P |
|
Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation... |
ORPHA:261318 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Bruising susceptibility |
ORPHA:230839 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypertensive retinopathy, Hypercalcemia |
ORPHA:276621 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation |
OMIM:234250 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... |
ORPHA:3412 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... |
ORPHA:95409 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus, Kyphosis, Scoliosis |
ORPHA:2181 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... |
ORPHA:35909 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism |
OMIM:617660 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Trisomy 18 |
|
Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... |
ORPHA:3380 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis |
OMIM:618728 |
Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia |
OMIM:618913 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Dysphagia |
OMIM:616029 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Optic atrophy |
OMIM:101800 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:613102 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:129200 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Abnormal stomach morphology |
ORPHA:281090 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Mednik Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology |
ORPHA:171851 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo... |
ORPHA:79319 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... |
ORPHA:157215 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Antalgic gait, Hypercalcemia, Increased circulating cortisol level, Difficulty... |
ORPHA:249 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... |
ORPHA:2369 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Pruritus, Portal h... |
ORPHA:98850 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly |
OMIM:609324 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer, Dysphagia |
ORPHA:220402 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Hypercalcemia, Gait ataxia |
ORPHA:476126 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly |
ORPHA:85198 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain... |
ORPHA:1414 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Jacobsen Syndrome |
|
Death in infancy, Epicanthus, Ectropion, Intestinal malrotation, Spina bifida, Eczema, Feeding di... |
ORPHA:2308 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating f... |
OMIM:610768 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Kyphoscoliosis |
OMIM:618339 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... |
ORPHA:329971 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Dilated cardiomyopathy, Ventricular tachycardia, Hyperkeratosis, Palmopl... |
OMIM:615821 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Bamforth-Lazarus Syndrome |
|
Cleft palate |
OMIM:241850 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shufflin... |
ORPHA:247234 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Pruritus, Esophageal varix, ... |
ORPHA:64743 |
Mpdu1-Cdg |
|
Scaling skin |
ORPHA:79323 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Scoliosis, Spinal dysraphism |
OMIM:612918 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Meningocele, Abnormal form of the ... |
ORPHA:2311 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia |
ORPHA:29072 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... |
OMIM:109400 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology |
ORPHA:209981 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Edema, Polyhydramnios, Per... |
ORPHA:363705 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer |
ORPHA:2500 |
Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip |
OMIM:601349 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia |
OMIM:131100 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormality of the vertebral column, Abnormal ver... |
OMIM:276950 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... |
ORPHA:85138 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin |
ORPHA:79456 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Kyphosis, Scoliosis |
ORPHA:816 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pheochromocytoma |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171300 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis |
OMIM:615023 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Orthokeratosis, Ectropion |
OMIM:173200 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkeratosis, Blepharitis |
OMIM:602400 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis, Anal ... |
OMIM:119580 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Milroy Disease |
|
Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Recon Progeroid Syndrome |
|
Dry skin, Scaling skin |
OMIM:620370 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Chemosis, Nausea, Unusu... |
ORPHA:73263 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Spina bifida, Polyhydramnios, Hydrops fetalis, Cleft palate, Upslanted pa... |
ORPHA:99776 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, High, narrow palate, Rectal prola... |
ORPHA:79076 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Basilar Impression, Primary |
|
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck |
OMIM:109500 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Skin rash, Myocard... |
ORPHA:809 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:48431 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Abdomi... |
ORPHA:3452 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:176920 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Eczema, Spina bifida, Nasogastric tube feeding in infancy, Hydrocephalus, Intraventri... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Eczema, Spina bifida, Nasogastric tube feeding in infancy, Hydrocephalus, Intraventri... |
ORPHA:363958 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Kyphosis, Scoliosis |
ORPHA:1883 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Scaling skin, Dry skin, Facial erythema |
ORPHA:1010 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Phakomatosis Pigmentokeratotica |
|
Scoliosis, Spina bifida |
ORPHA:2874 |
Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele |
ORPHA:1759 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly |
OMIM:617974 |
Meckel Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... |
ORPHA:564 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal eyelid morphology, Feeding difficulties in infancy, Anorectal anomaly, G... |
ORPHA:567 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
ORPHA:93283 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Scoliosis, Spina bifida |
OMIM:161200 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Epicanthus, Congestive heart failure, Arterial rupture, Follicular h... |
OMIM:225400 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... |
OMIM:264180 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Mycetoma |
|
Back pain, Recurrent bacterial skin infections, Abnormal form of the vertebral bodies, Cobbleston... |
ORPHA:2583 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly |
ORPHA:168555 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Secretory diarrhea,... |
OMIM:618183 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Cloacal Exstrophy |
|
Myelomeningocele, Hemivertebrae, Spina bifida |
ORPHA:93929 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly |
OMIM:271600 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Esophageal varix,... |
ORPHA:974 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Necrobiosis Lipoidica |
|
Erythema, Skin ulcer |
ORPHA:542592 |
Immunodeficiency 58 |
|
Psoriasiform lesion, Scaling skin, Dysphagia |
OMIM:618131 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... |
OMIM:601678 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:264700 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:615834 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Ulnar Hemimelia |
|
Butterfly vertebrae, Scoliosis, Spinal dysraphism |
ORPHA:93320 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... |
ORPHA:93352 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Congenital Myopathy 12 |
|
Abnormal circulating creatine kinase concentration, Akinesia |
OMIM:612540 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... |
ORPHA:2671 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Intracranial hemorrhage, Inflammation of the large intestine, Con... |
ORPHA:906 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Maculopapular exanthema, Poor appetite, Abdominal... |
ORPHA:319218 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Skin rash, Epistaxis, Abdominal p... |
ORPHA:727 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus |
ORPHA:1059 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly |
ORPHA:93274 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin |
ORPHA:35173 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Microcephaly, Large placenta, Hydrocephalus, Anencephaly, Cerebral hypop... |
OMIM:249000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Upslanted palpebral fissure, Hematochezia, Downslanted palpebr... |
ORPHA:261311 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hemat... |
OMIM:615895 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Optic atrophy from cranial nerve compression |
ORPHA:210110 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Death in infancy, Death i... |
ORPHA:144 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
Myopathy, Centronuclear, 2 |
|
Intrauterine growth retardation, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Leishmaniasis |
|
Skin ulcer, Pallor, Anorexia |
ORPHA:507 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he... |
ORPHA:33226 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Transient ischemi... |
ORPHA:774 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Reticular Dysgenesis |
|
Skin ulcer |
ORPHA:33355 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Sacral dimple, Kyphosis |
OMIM:618272 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin |
OMIM:606367 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia |
ORPHA:240071 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Scaling skin |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Scoliosis, Short neck |
ORPHA:75840 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Dermal translucency |
ORPHA:529965 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abdominal pain |
ORPHA:234 |
Geroderma Osteodysplastica |
|
Vertebral compression fracture, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis, ... |
ORPHA:2078 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Furrowed tongue, Melena, Kerat... |
OMIM:158310 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Hypocalcemia |
ORPHA:53 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Keratoconjunctivitis sicca, Gastrointest... |
ORPHA:91138 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Spinal cord compression, Platyspondyly, Cervical instability, Abno... |
ORPHA:93346 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Frank-Ter Haar Syndrome |
|
Umbilical hernia, Beaking of vertebral bodies, Kyphosis, Scoliosis |
ORPHA:137834 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Skin rash, Acne, Sudden cardiac death, Angina pectoris, Pruritus, Te... |
ORPHA:758 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Fanconi Anemia |
|
Anal atresia, Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond... |
ORPHA:84 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Skin rash, Palpebral edema, Angin... |
ORPHA:93672 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia |
OMIM:606693 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... |
OMIM:610968 |
Kid Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Scaling skin, Follicular hyperkeratosis |
ORPHA:477 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... |
OMIM:615986 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:1426 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Umbilical hernia, Kyphosis, Scoliosis |
ORPHA:352490 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Tip-toe gait, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Intrauterine growth... |
ORPHA:2655 |
Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Hypophosphatemia |
OMIM:613388 |
Somatostatinoma |
|
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea |
ORPHA:97283 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:615225 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec... |
ORPHA:2789 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Akinesia, Dystonia |
OMIM:300894 |
Perry Syndrome |
|
Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Ovoid vertebral bodies |
OMIM:609052 |
Graft Versus Host Disease |
|
Scaling skin |
ORPHA:39812 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Alobar holoprosencephaly |
OMIM:615433 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:242300 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia |
OMIM:277440 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Spina bifida, Sparse eyebrow, High, narrow palate, Narrow palate, Telangiectasi... |
OMIM:234100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Edema of the dorsum of feet, Eosinophilia, Spina bifida, Seborrheic dermatitis,... |
OMIM:274000 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis |
OMIM:618527 |
Sialidosis Type 2 |
|
Umbilical hernia, Kyphosis |
ORPHA:87876 |
Psoriasis 14, Pustular |
|
Parakeratosis, Erythema, Epidermal acanthosis |
OMIM:614204 |
Pyle Disease |
|
Platyspondyly, Scoliosis |
OMIM:265900 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis |
OMIM:602271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:608649 |
Vipoma |
|
Hypokalemia, Diabetes mellitus, Increased circulating cortisol level, Hypercalcemia |
ORPHA:97282 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h... |
ORPHA:276152 |
Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Biconcave vertebral bodies, Vertebral wedging |
OMIM:610967 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:289157 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short neck, Fused cervical vertebrae, T... |
ORPHA:508498 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Akinesia, Dystonia |
ORPHA:306682 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intraute... |
ORPHA:2050 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor |
OMIM:619737 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Eosinophilia, Vasculitis, Malar rash, Petechiae |
OMIM:603909 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly |
OMIM:184840 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Symblepharon, Trichiasis, Acantholysis, Oral-pha... |
ORPHA:95455 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:304050 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:242100 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Lissencephaly, Short umbilical cord, Small placenta, Primary microcephaly, Hydranen... |
OMIM:256520 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time |
OMIM:214950 |
Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Scaling skin |
ORPHA:36234 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking |
ORPHA:3198 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of... |
OMIM:617718 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c... |
ORPHA:2137 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
Holoprosencephaly |
|
Encephalocele, Epicanthus, Median cleft lip and palate, Highly arched eyebrow, Feeding difficulti... |
ORPHA:2162 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Glucagonoma |
|
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea |
ORPHA:97280 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhea, Hepatic failure |
OMIM:613812 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... |
ORPHA:79321 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia |
ORPHA:913 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Vomiting, Hypocholesterolemia, Constrictive pericarditis,... |
ORPHA:90363 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Spina bifida, Kyphosco... |
OMIM:114290 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Edema, Hematemesis, Pericardial effusion, Diarrhea, Va... |
OMIM:615846 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Ring Chromosome 13 Syndrome |
|
Agenesis of corpus callosum, Anencephaly, Microcephaly |
ORPHA:96176 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Hypoglycemia, Hypocalcemia |
OMIM:607143 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth retardation, Hypo... |
ORPHA:628 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocele, Dural ectasia,... |
OMIM:130720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Lethal Congenital Contracture Syndrome 2 |
|
Degenerative vitreoretinopathy, Akinesia |
OMIM:607598 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Sacral dimple, Exencephaly |
ORPHA:2211 |
Sialidosis Type 1 |
|
Hyperkeratosis, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Postprand... |
ORPHA:79102 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Thoracic platyspondyly, Abnormal lumbar spine morphology, Bico... |
ORPHA:166011 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Telangiectasia of the skin, Spina bifida, Abdominal pain, Gastroesophageal... |
ORPHA:2092 |
Takayasu Arteritis |
|
Skin ulcer, Anorexia |
ORPHA:3287 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... |
OMIM:236680 |
Prolidase Deficiency |
|
Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
ORPHA:742 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Raynaud phenomenon, Punctate vasculitis skin lesions, Mac... |
ORPHA:247691 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms, Dermal translucency |
OMIM:617682 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Beaking of vertebral bodies, Lumbar platyspondyly, Thoracic platy... |
OMIM:618961 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida |
OMIM:162200 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Ataxia, Hypocalcemia, Difficulty walking |
OMIM:618476 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Short stature, Spina bifida |
ORPHA:991 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis |
ORPHA:158668 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Scaling skin |
ORPHA:294023 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Palmoplantar keratoderma, Skin ulcer |
ORPHA:659 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... |
OMIM:253010 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Glycosuria |
ORPHA:411629 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Isolated Agammaglobulinemia |
|
Skin ulcer |
ORPHA:229717 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Intrauterine gro... |
OMIM:192350 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly |
ORPHA:250984 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Ppoma |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97278 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... |
ORPHA:175 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Akinesia |
OMIM:619147 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
4Q21 Microdeletion Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Hyperkeratosis, Vertebral segmentation defect, Scoliosis, Intrauterine growth retardation |
ORPHA:1005 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Hype... |
ORPHA:3008 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Vertebral compression fracture, Scoliosis |
OMIM:112240 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... |
OMIM:231070 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Palmoplantar ke... |
ORPHA:79501 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Highly arched eyebrow, Spina bifida, Polyhydramnios, High, narrow pala... |
OMIM:180849 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Edema, Anorexia, Pustule, Abdominal ... |
ORPHA:761 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia |
ORPHA:97349 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Tethered cord, Spina bifida, Feeding difficulties, Chronic constipation, Gastroesopha... |
OMIM:619480 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Spinal cord compression, Diarrhea, Adenomatous colonic poly... |
ORPHA:99818 |
Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Gastrointe... |
OMIM:187300 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h... |
OMIM:257980 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum |
OMIM:604416 |
Riddle Syndrome |
|
Erythema, Scaling skin |
ORPHA:420741 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Ataxia, Hypocalcemia, Steatorrhea |
OMIM:212750 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... |
OMIM:177170 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly |
ORPHA:90653 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis |
OMIM:615220 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Psoriasiform lesion |
OMIM:614700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum |
OMIM:616576 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly |
ORPHA:71267 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
Grfoma |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97261 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking |
ORPHA:320406 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormality of the vertebral endplates, Platyspondyly, Ovoid vertebral bodies |
ORPHA:1856 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Hydroxykynureninuria |
|
Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Steatorrhea, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Gl... |
ORPHA:699 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Hydrocephalus, Platyspondyly |
ORPHA:163966 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Myelomeningocele, Scoliosis |
ORPHA:94065 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Thoracolumbar kyphosis, Cer... |
ORPHA:15 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Palmar hyperkeratosis |
OMIM:314580 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly |
ORPHA:2619 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Chronic Mucocutaneous Candidiasis |
|
Hyperkeratosis, Erythema, Skin ulcer |
ORPHA:1334 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Hypocalcemia |
OMIM:259700 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Follicular hyperkeratosis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Dent Disease 1 |
|
Glycosuria, Hypophosphatemia |
OMIM:300009 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Parakeratosis, Dry skin, Epidermal acanthosis |
OMIM:607626 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Platyspondyly, Severe platyspondyly, Scoliosis |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral interpedicu... |
OMIM:618395 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:617952 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer |
ORPHA:86884 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Intrauterine growth retardation, B... |
OMIM:230500 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Gastrointe... |
OMIM:600376 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Hydrocephalus |
OMIM:603387 |
Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Syringomyelia, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
Ruvalcaba Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Kyphosis, Scoliosis |
ORPHA:2075 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Retinal pigment epithelial mottling, Reduced blood urea nitrogen... |
OMIM:219800 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hernia |
OMIM:239850 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... |
ORPHA:91139 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... |
ORPHA:845 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Acne, Myoca... |
ORPHA:117 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia |
ORPHA:79095 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... |
ORPHA:900 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
ORPHA:1657 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short neck |
ORPHA:93267 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum |
OMIM:150550 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Abdominal pain, Hydrocephalus, Chylop... |
ORPHA:538 |
Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... |
OMIM:255800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Tremor, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Blepharospasm, ... |
OMIM:234200 |
Meige Disease |
|
Cobblestone-like hyperkeratosis, Skin ulcer |
ORPHA:90186 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer, Anorexia |
ORPHA:37 |
Rat-Bite Fever |
|
Scaling skin |
ORPHA:31205 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:300280 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility |
OMIM:208230 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Anisospondyly |
ORPHA:163649 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Williams Syndrome |
|
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Retinal arteriolar tor... |
ORPHA:904 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Fucosidosis |
|
Kyphosis, Generalized hyperkeratosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Cervica... |
OMIM:607095 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis, Neonatal... |
OMIM:620351 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Hydrocephalus |
OMIM:616294 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Spondylo-Ocular Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck |
ORPHA:85194 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:465508 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrauterine growth r... |
ORPHA:2616 |
Restrictive Dermopathy |
|
Dermal translucency, Generalized hyperkeratosis, Scaling skin, Epidermal hyperkeratosis |
ORPHA:1662 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Intrauterine growth retardation |
OMIM:251450 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Kyphosis |
OMIM:169400 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hydrocephalus, Feeding difficulties, Hematochezia, Chronic constipation |
OMIM:619575 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis |
OMIM:126550 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Melena, Pro... |
OMIM:276700 |
Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Spina bifida, Short neck, Hydrocephalus, Platyspondyly, Stillbirth, Spondylolysis... |
OMIM:304120 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Impulsivity, Erythema, Bruxism, Facial erythema, Cutis laxa, Stereotypical body rocking, Scaling ... |
OMIM:619503 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly |
ORPHA:157965 |
Prolidase Deficiency |
|
Petechiae, Skin ulcer |
OMIM:170100 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Type I diabetes ... |
ORPHA:37042 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hydrocephalus |
ORPHA:1860 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Kniest Dysplasia |
|
Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Vertebral wedging, Cervi... |
ORPHA:485 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98863 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Poor appetite, Anorexia, Hematemesis, Bowel urgency... |
ORPHA:100075 |
Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia |
ORPHA:652 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck |
ORPHA:3409 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Anauxetic Dysplasia 3 |
|
Spinal cord compression, Beaking of vertebral bodies, Thoracolumbar kyphoscoliosis, Platyspondyly |
OMIM:618853 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... |
ORPHA:1724 |
Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly |
ORPHA:319195 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
Mccune-Albright Syndrome |
|
Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia |
ORPHA:562 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis |
OMIM:184252 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer, Dysphagia |
ORPHA:220393 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Platyspondyly, Neonatal death |
OMIM:616482 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Inflammation of the large intestine |
OMIM:618108 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Abnormal spinal cord morphology, Scoliosis |
ORPHA:88628 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology |
ORPHA:174 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Pruritus, Erythema nodosum, Lip telangiectasia, ... |
OMIM:613471 |
Odontochondrodysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:166272 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Epicanthus, Highly arched eyebrow, Feeding difficult... |
ORPHA:508488 |
Harrod Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:2115 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Platyspondyly, Kyphoscoliosis |
OMIM:612350 |
Odontochondrodysplasia 1 |
|
Coronal cleft vertebrae, Biconvex vertebral bodies, Platyspondyly, Scoliosis |
OMIM:184260 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Schaaf-Yang Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615547 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Pontocerebellar Hypoplasia, Type 17 |
|
Intrauterine growth retardation, Kyphosis |
OMIM:619909 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Scoliosis |
OMIM:248800 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Scaling skin, Follicular hyperkerato... |
OMIM:308205 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebral bodies, P... |
ORPHA:168549 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Butterfly vertebrae |
ORPHA:958 |
Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... |
ORPHA:358 |
Hurler-Scheie Syndrome |
|
Umbilical hernia, Kyphosis, Scoliosis |
OMIM:607015 |
Werner Syndrome |
|
Hyperkeratosis, Lack of skin elasticity, Skin ulcer |
ORPHA:902 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Optic nerve compression, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Morbilliform r... |
ORPHA:99827 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98853 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Platyspondyly |
OMIM:300863 |
3C Syndrome |
|
Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Scoliosis |
ORPHA:7 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly |
OMIM:601356 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis |
OMIM:300354 |
Emanuel Syndrome |
|
Sacral dimple, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation |
OMIM:609029 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Short neck, Platyspondyly, Umbilical hernia, Narrow vertebral interpedicu... |
OMIM:269250 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Distal Triplication 15Q |
|
Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, Intrauterine growth retardation |
ORPHA:314588 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Hypercalcemia, Retinal arteriolar tortuosity, Glucose intolerance, Gait imbalance |
OMIM:194050 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Kyphosis, Scoliosis |
OMIM:617190 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Restrictive Dermopathy 1 |
|
Scaling skin, Epidermal hyperkeratosis |
OMIM:275210 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Severe platyspondyly, Platyspondyly, Short neck |
OMIM:187600 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria |
ORPHA:1652 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Skin ulcer |
ORPHA:2314 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly |
ORPHA:1782 |
Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Dystonia, Akinesia, Hand tremor |
OMIM:618947 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Osteogenesis Imperfecta, Type Xvi |
|
Vertebral compression fracture, Platyspondyly |
OMIM:616229 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Trisomy 13 |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:3378 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Platyspondyly, Pear-shaped vertebrae, Irregular sclerotic endplates |
OMIM:602111 |
Saul-Wilson Syndrome |
|
Spinal cord compression, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platy... |
OMIM:618150 |
Czech Dysplasia |
|
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... |
OMIM:609162 |
Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly |
OMIM:618641 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d... |
ORPHA:731 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Hydrocephalus, Scoliosis |
OMIM:619951 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Ataxia, Hypocalcemia |
ORPHA:31826 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Opisthotonus |
OMIM:608013 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Kniest Dysplasia |
|
Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis, Umbilical hernia |
OMIM:156550 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:90322 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:254346 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Gm1-Gangliosidosis, Type Ii |
|
Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, Beaking of verteb... |
OMIM:230600 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Umbilical hernia, Biconc... |
OMIM:607014 |
Marden-Walker Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormalit... |
ORPHA:322 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,... |
ORPHA:2785 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Hydrocephalus, Cervical cord compression, Umbilical hernia |
OMIM:309900 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumbar kyphosis |
OMIM:617425 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Intracranial hemorrha... |
ORPHA:90062 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thoraco... |
OMIM:151210 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis |
OMIM:618443 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615108 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... |
OMIM:263200 |
Woodhouse-Sakati Syndrome |
|
Scaling skin |
ORPHA:3464 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:613848 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypocalcemia |
OMIM:192430 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Hyperaldosteronism, Hypophosph... |
ORPHA:534 |
Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Kyphoscoliosis, Platyspondyly, Scoliosis |
OMIM:614856 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Fibrochondrogenesis 2 |
|
Platyspondyly |
OMIM:614524 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epicanthus, Miscarriage, Hepatoblastoma, Polyhydramnios, Large placenta, Spinal dysraphism, Feedi... |
ORPHA:96334 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hypertriglyceridemia, Poor appetite, Diarrhea, Pr... |
ORPHA:247598 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Self-mutilation, Acral ulceration |
OMIM:256800 |
Lethal Kniest-Like Dysplasia |
|
Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Short neck |
ORPHA:2347 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly |
ORPHA:93351 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:354 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Scoliosis |
ORPHA:364028 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615109 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Kyphosis, Dural ectasia |
OMIM:616914 |
Giant Cell Arteritis |
|
Skin ulcer, Anorexia |
ORPHA:397 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Diffuse optic disc pallor, Rod-cone d... |
ORPHA:86309 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:612852 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Skin ulcer, Attention deficit hyperactivity disorder |
ORPHA:464 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Miscarriage, Anorexia, Hematemesis, Retinal hemorrhage, Macular ede... |
ORPHA:319251 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Conjunct... |
ORPHA:480520 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform lesion |
ORPHA:85436 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Cervical instability, Bi... |
OMIM:102500 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis |
OMIM:300232 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Scoliosis |
OMIM:619131 |
Livedoid Vasculopathy |
|
Ecchymosis, Skin ulcer, Macular purpura |
ORPHA:542643 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Kyphoscoliosis |
OMIM:618644 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac di... |
OMIM:301068 |
Hall-Riggs Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:2107 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Bruck Syndrome 2 |
|
Platyspondyly |
OMIM:609220 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hernia |
ORPHA:1517 |
Micro Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:2510 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly |
OMIM:187601 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po... |
ORPHA:3042 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... |
OMIM:619636 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Sotos Syndrome |
|
Tremor, Hypercalcemia, Neonatal hypoglycemia |
ORPHA:821 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax... |
ORPHA:239 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Intrauterine growth retardation, Spondylolisth... |
ORPHA:763 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Vertebral compression fracture, Kyphoscoliosis, Scoliosis, Short neck |
OMIM:309583 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Atelosteogenesis Type I |
|
Coronal cleft vertebrae, Platyspondyly, Scoliosis, Absent or minimally ossified vertebral bodies |
ORPHA:1190 |
Sillence Syndrome |
|
Back pain, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral disc degeneration |
ORPHA:3168 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Short neck |
OMIM:616897 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Platyspondyly, Vertebral wedging |
OMIM:617866 |
Chronic Granulomatous Disease |
|
Skin ulcer |
ORPHA:379 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Dysplastic sacrum, Severe platyspondyly, Short neck |
OMIM:613320 |
Infantile Systemic Hyalinosis |
|
Skin ulcer |
ORPHA:2176 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:500055 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia |
OMIM:301040 |
Gaucher Disease, Type I |
|
Vertebral compression fracture |
OMIM:230800 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypokalemia, Increased... |
ORPHA:466677 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis |
OMIM:242900 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Ataxia |
OMIM:268800 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia |
OMIM:613658 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Thoracolumbar scoliosis, Scoliosis, Short neck |
OMIM:616723 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Eosinophilia, Eczema, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea... |
OMIM:301000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Dominant Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:231226 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2479 |
Alexander Disease |
|
Hyperlordosis, Aqueductal stenosis, Kyphosis, Short neck, Hydrocephalus, Scoliosis |
ORPHA:58 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:158350 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia |
OMIM:615574 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Orthokeratosis |
OMIM:308050 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
OMIM:617602 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Intrauterine growth retardation, Spondyloli... |
OMIM:610443 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:192 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:85293 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Monosomy 9Q22.3 |
|
Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Umbilical hernia |
ORPHA:77301 |
Achondroplasia |
|
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Spinal stenosis with reduced int... |
OMIM:100800 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Skin ulcer, Palmoplantar hyperkeratosis |
ORPHA:2907 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
Ramon Syndrome |
|
Hyperkeratosis, Kyphosis, Scoliosis |
OMIM:266270 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
Plague |
|
Abnormal bleeding, Chapped lip, Tachycardia, Skin rash, Edema, Anorexia, Hematemesis, Erythema no... |
ORPHA:707 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anterior scalloping of vertebral bodies, Platyspondyly, Cuboid-shaped vertebral bodies, Short neck |
OMIM:611717 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Hydrocephalus, Cervical spine ... |
ORPHA:536467 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Umbilical her... |
OMIM:265000 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer |
OMIM:116920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis, In... |
OMIM:300966 |
Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck |
ORPHA:1830 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Poland Syndrome |
|
Encephalocele, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spi... |
ORPHA:2911 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis |
OMIM:259600 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer |
ORPHA:3474 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... |
ORPHA:508 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression fracture, Noncommunicating hydr... |
ORPHA:666 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Ataxia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy |
OMIM:124000 |
Cranioectodermal Dysplasia 1 |
|
Retinal dystrophy, Hypocalcemia |
OMIM:218330 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly |
OMIM:166210 |
Beta-Thalassemia Major |
|
Pallor, Skin ulcer |
ORPHA:231214 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly |
ORPHA:85166 |
2P15P16.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:261349 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2215 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Dyskeratosis Congenita |
|
Skin vesicle, Palmoplantar keratoderma, Skin ulcer |
ORPHA:1775 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis |
OMIM:203800 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, ... |
OMIM:602535 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Esophageal varix, Feeding difficulties, Pulmonar... |
ORPHA:2072 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Umbilical hernia |
ORPHA:536532 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Glycosuria, Hyperglycemia, Retinopathy |
ORPHA:99885 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul... |
OMIM:135900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Agitation, Skin ulcer, Purpura |
OMIM:615688 |
2Q31.1 Microdeletion Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck |
ORPHA:251014 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Marden-Walker Syndrome |
|
Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... |
ORPHA:2461 |
Dysosteosclerosis |
|
Increased intervertebral space, Irregular vertebral endplates, Platyspondyly, Hypoplastic vertebr... |
OMIM:224300 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Platyspondyly, Kyphoscoliosis, Cervical spine instability |
OMIM:615349 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, ... |
ORPHA:955 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormally s... |
ORPHA:800 |
Pgm3-Cdg |
|
Skin ulcer |
ORPHA:443811 |
Cohen Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
ORPHA:193 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the... |
ORPHA:280 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Posterior vertebral hypoplasia, Short neck |
OMIM:228520 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
African Trypanosomiasis |
|
Papilledema, Akinesia, Tremor, Choreoathetosis, Optic neuritis, Gait disturbance, Difficulty walk... |
ORPHA:3385 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Granulomatosis With Polyangiitis |
|
Skin ulcer |
OMIM:608710 |
Weaver Syndrome |
|
Umbilical hernia, Kyphosis, Scoliosis |
OMIM:277590 |
Desbuquois Dysplasia 2 |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Broad-based gait, Optic nerve hypoplasia, Hypocalcemia, Dystonia |
OMIM:620330 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly |
ORPHA:1855 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant d... |
ORPHA:79474 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Feeding difficulties, Abnormal heart rate variability, Neural tube d... |
ORPHA:93924 |
Atelosteogenesis, Type I |
|
Encephalocele, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coronal cleft verteb... |
OMIM:108720 |
Lowry-Wood Syndrome |
|
Platyspondyly |
ORPHA:1824 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Skin ulcer |
ORPHA:68 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
OMIM:619005 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Platyspondyly, Scoliosis, Short neck |
OMIM:245600 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia |
OMIM:609069 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Platyspondyly, Scoliosis |
OMIM:612394 |
Malakoplakia |
|
Skin ulcer |
ORPHA:556 |
Spondyloocular Syndrome |
|
Vertebral compression fracture, Platyspondyly |
OMIM:605822 |
Yellow Fever |
|
Abnormal bleeding, Shock, Skin rash, Nausea, Abdominal pain, Hematemesis, Excessive bleeding afte... |
ORPHA:99829 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Intrauterine growth ret... |
OMIM:139210 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Pruritus, Platyspondyly, Scoliosis |
OMIM:619269 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Steatorrhea |
ORPHA:440713 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis, Umbilical hernia |
ORPHA:1507 |
Fusariosis |
|
Skin ulcer |
ORPHA:228119 |
Sweet Syndrome |
|
Skin vesicle, Pyoderma gangrenosum |
ORPHA:3243 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... |
OMIM:143095 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Bent Bone Dysplasia Syndrome 2 |
|
Coronal cleft vertebrae, Platyspondyly, Butterfly vertebrae, Short neck |
OMIM:620076 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Gastric ulcer |
OMIM:604928 |
Greenberg Dysplasia |
|
Large placenta, Punctate vertebral calcifications, Hypoplastic vertebral bodies, Horizontal sacru... |
OMIM:215140 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Shwachman-Diamond Syndrome |
|
Vertebral compression fracture, Skin rash, Eczema |
ORPHA:811 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Hypoglycemia, Tremor, Hyperammonemia, Dysmetria, Truncal ataxia, Hyperglycemia |
OMIM:220111 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis |
OMIM:618050 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
Prader-Willi Syndrome |
|
Intrauterine growth retardation, Kyphosis, Scoliosis |
OMIM:176270 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464738 |
Marfan Syndrome |
|
Kyphosis, Meningocele, Dural ectasia, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Skin rash, Platyspondyly, Chronic mucocutaneous candidiasis |
OMIM:102700 |
Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Skin rash, Recurrent skin infections, Anorexia, Abdom... |
OMIM:619381 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer, Ptosis |
OMIM:161700 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia |
OMIM:612199 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Kyphoscoliosis, Coronal cleft vertebrae, Platyspondyly, Scoliosis, Bea... |
ORPHA:536471 |
Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:221 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464311 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:398069 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple |
OMIM:620185 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis |
OMIM:212065 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hydrocephalus |
ORPHA:401973 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hydrocephalus |
OMIM:300960 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis |
OMIM:619708 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Spinal cord compression, Irregular vertebral ... |
OMIM:271640 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464306 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Holoprosencephaly, Scoliosis, Intrau... |
ORPHA:818 |
Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Dysphagia, Anteriorly placed anus, Macroglossia, Neural tube defect, High ... |
ORPHA:798 |
Cushing Disease |
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Ecchymosis, Striae distensae, Skin ulcer, Purpura |
ORPHA:96253 |
Aspartylglucosaminuria |
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Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Meningocele |
ORPHA:397715 |
Leprosy |
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Hyperkeratosis, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis |
OMIM:153400 |
Chronic Graft Versus Host Disease |
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Anorexia, Erythema, Skin ulcer, Dysphagia, Skin vesicle |
ORPHA:99921 |
Cowden Syndrome |
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Kyphosis, Palmoplantar keratoderma, Generalized hyperkeratosis, Scoliosis |
ORPHA:201 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany |
ORPHA:83471 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Hydrocephalus, Abnormal form of the ver... |
OMIM:194190 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Umbilical hernia, Platyspondyly, Short neck |
ORPHA:309282 |
Primary Sjögren Syndrome |
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Dry skin, Skin ulcer, Purpura |
ORPHA:289390 |
Lenz-Majewski Hyperostotic Dwarfism |
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Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2658 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Kyphosis, Scoliosis, Short neck |
OMIM:619194 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Porphyria, Congenital Erythropoietic |
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Vertebral compression fracture |
OMIM:263700 |
Marshall Syndrome |
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Platyspondyly |
OMIM:154780 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Broad-based gait, Exaggerated startle response, Decreased serum iron, Inabilit... |
ORPHA:438213 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Mucolipidosis Type Ii |
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Umbilical hernia, Kyphosis |
ORPHA:576 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Atlantoaxial instability... |
OMIM:271665 |
Choreoacanthocytosis |
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Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis |
ORPHA:171629 |
Blau Syndrome |
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Erythema, Dry skin, Skin ulcer |
ORPHA:90340 |
Zttk Syndrome |
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Intrauterine growth retardation, Kyphosis, Hemivertebrae, Scoliosis |
OMIM:617140 |
X-Linked Intellectual Disability, Snyder Type |
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Kyphosis, Kyphoscoliosis |
ORPHA:3063 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Kyphosis |
ORPHA:85199 |
Cockayne Syndrome B |
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Intrauterine growth retardation, Normal pressure hydrocephalus, Kyphosis |
OMIM:133540 |
Cockayne Syndrome A |
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Intrauterine growth retardation, Normal pressure hydrocephalus, Kyphosis |
OMIM:216400 |
Camurati-Engelmann Disease |
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Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis |
ORPHA:1328 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly |
OMIM:304150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Kyphosis, Hydrocephalus, Abnormal curvature of the vertebral column, Scoliosis, Intrau... |
OMIM:619475 |
Stickler Syndrome |
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Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:828 |
Charge Syndrome |
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Retinal coloboma, Hypocalcemia |
OMIM:214800 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Kyphosis, Hyperkeratosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... |
ORPHA:2273 |
Osteogenesis Imperfecta, Type Vii |
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Vertebral compression fracture, Scoliosis |
OMIM:610682 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Irregular vertebral endplates, Platyspondyly, Posterior scalloping of vertebral bodies, Short neck |
OMIM:610442 |
Digeorge Syndrome |
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Hypocalcemia |
OMIM:188400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Intrauterine growth retardation, Sacral dimple, Kyphosis, Scoliosis |
ORPHA:268261 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:300967 |
Cockayne Syndrome Type 3 |
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Kyphosis, Scoliosis |
ORPHA:90324 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neurofibromatosis Type 1 |
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Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:636 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Anorexia, Skin ulcer, Ecchymosis, Striae distensae, Purpura |
ORPHA:99889 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concen... |
OMIM:243800 |
Osteoglophonic Dysplasia |
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Platyspondyly, Short neck |
OMIM:166250 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Short neck, Hydrocephalus, Cleft vertebral arch, Hyperkeratosis, Platyspondyly |
OMIM:210710 |
Kyphomelic Dysplasia |
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Platyspondyly |
OMIM:211350 |
Myhre Syndrome |
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Platyspondyly |
ORPHA:2588 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acral ulceration |
OMIM:256810 |
17Q11 Microdeletion Syndrome |
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Kyphosis, Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3,... |
ORPHA:97685 |
Proteus Syndrome |
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Kyphosis, Abnormal form of the vertebral bodies, Sirenomelia, Scoliosis, Generalized hyperkeratosis |
ORPHA:744 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Parakeratosis, Epidermal acanthosis |
ORPHA:83617 |
Sponastrime Dysplasia |
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Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... |
ORPHA:93357 |
Blomstrand Lethal Chondrodysplasia |
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Platyspondyly |
ORPHA:50945 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele |
OMIM:277170 |
Wrinkly Skin Syndrome |
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Umbilical hernia, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:278250 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Platyspondyly |
OMIM:263520 |
Phocomelia, Schinzel Type |
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Meningocele |
ORPHA:2879 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hyperglycemia |
ORPHA:444077 |
Lowe Oculocerebrorenal Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
OMIM:309000 |
Fontaine Progeroid Syndrome |
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Umbilical hernia, Hydrocephalus, Scoliosis, Platyspondyly |
OMIM:612289 |
Craniotubular Dysplasia, Ikegawa Type |
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Increased intervertebral space, Platyspondyly |
OMIM:619727 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly |
ORPHA:93317 |
Cockayne Syndrome |
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Kyphosis, Scoliosis |
ORPHA:191 |
Coffin-Lowry Syndrome |
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Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Monosomy 22Q13.3 |
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Hair-pulling, Hyperactivity, Bruxism |
ORPHA:48652 |
1P36 Deletion Syndrome |
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Kyphosis, Spinal canal stenosis, Scoliosis |
ORPHA:1606 |
Acromegaly |
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Kyphosis, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
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Kyphosis, Spinal canal stenosis |
ORPHA:314769 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:99413 |
Mosaic Monosomy X |
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Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:99228 |
Monosomy X |
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Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:99226 |
Turner Syndrome |
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Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck |
ORPHA:881 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Branchiooculofacial Syndrome |
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Hyperlordosis, Short neck, Kyphosis, Branchial anomaly, Intrauterine growth retardation |
OMIM:113620 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly, Short neck |
OMIM:250220 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Viss Syndrome |
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Umbilical hernia, Kyphosis, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Primrose Syndrome |
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Kyphosis, Posterior scalloping of vertebral bodies, Irregular vertebral endplates |
OMIM:259050 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Yunis-Varon Syndrome |
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Intrauterine growth retardation, Kyphosis, Anterior concavity of thoracic vertebrae, Palmoplantar... |
OMIM:216340 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Short neck |
ORPHA:99646 |
Leukocyte Adhesion Deficiency |
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Pyoderma gangrenosum |
ORPHA:2968 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |
Pmm2-Cdg |
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Platyspondyly, Kyphoscoliosis |
ORPHA:79318 |
Alström Syndrome |
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Kyphosis, Thoracic scoliosis, Lumbar scoliosis |
ORPHA:64 |