| Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Curly hair |
OMIM:620411 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... |
ORPHA:2891 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... |
ORPHA:79414 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypertrichosis, Congenital Generalized, 2 |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy |
|
Hypertrichosis |
OMIM:620470 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
| Naxos Disease |
|
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair |
ORPHA:34217 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
| Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... |
ORPHA:1808 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail m... |
ORPHA:248 |
| Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Scoliosis, Cryptorchidism |
ORPHA:408 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... |
ORPHA:2228 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... |
ORPHA:1433 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... |
ORPHA:113 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... |
OMIM:600561 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... |
OMIM:609223 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair |
ORPHA:1882 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Woolly Hair-Skin Fragility Syndrome |
|
Woolly hair |
OMIM:620415 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail... |
OMIM:614931 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... |
OMIM:271630 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a... |
ORPHA:577 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... |
ORPHA:163654 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair |
OMIM:615280 |
| Noonan Syndrome 6 |
|
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair |
OMIM:613224 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Lumbar hyperlordosis, Thoracic scoliosis, Left ventricular hypertrophy, T... |
ORPHA:206546 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Curly hair |
OMIM:611553 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... |
ORPHA:444463 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:620075 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
| Leopard Syndrome 3 |
|
Low posterior hairline, Curly hair |
OMIM:613707 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Hyperlordosis, Cryptorchidism, Abnormal mitral valve morphology |
ORPHA:1192 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Rigid Spine Syndrome |
|
Scoliosis, Hyperlordosis, Spinal rigidity |
ORPHA:97244 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys |
ORPHA:1021 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Left ventricular hypertrophy, Hyperlordosis, Micropenis, Scoliosis |
OMIM:613156 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Myopathy, Distal, 1 |
|
Left atrial enlargement, Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis |
OMIM:160500 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperlordosis, Kyphosis, Hypergona... |
ORPHA:3085 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Cardiomyopathy, Spinal rigidity |
OMIM:609308 |
| Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Ventricular septal defect, Kyphos... |
OMIM:619542 |
| Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair |
ORPHA:90368 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Naxos Disease |
|
Sparse eyebrow, Subungual hyperkeratosis, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... |
OMIM:601214 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:97290 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:319487 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:161800 |
| Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Noonan Syndrome 7 |
|
Low posterior hairline, Curly hair |
OMIM:613706 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis |
OMIM:616756 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na... |
OMIM:234050 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:858 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... |
OMIM:602450 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... |
OMIM:617396 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism |
ORPHA:1387 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... |
ORPHA:1797 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Brittle hair, Coarse hair |
ORPHA:1883 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
OMIM:603552 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Curly hair |
OMIM:610733 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple |
OMIM:615761 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Hyperlordosis, Thoracic scoliosis |
ORPHA:62 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair |
OMIM:617360 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Chops Syndrome |
|
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys |
OMIM:616368 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Scoliosis, Hyperlordosis |
OMIM:620389 |
| Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Nail dystrophy |
OMIM:601957 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:545 |
| Noonan Syndrome 14 |
|
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:619745 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... |
OMIM:300853 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells |
OMIM:618982 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis |
ORPHA:352470 |
| Hypochondroplasia |
|
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies |
ORPHA:429 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica... |
ORPHA:2522 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair |
OMIM:614602 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... |
OMIM:602557 |
| Pachyonychia Congenita 2 |
|
Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse scalp ... |
OMIM:167210 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Hepatosplenomegaly, S... |
ORPHA:93352 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Lumbar hyperlordosis, Left ventricular hypertrophy, Scoliosis, Spinal rigidity |
ORPHA:86812 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain |
ORPHA:56425 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis |
OMIM:222600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... |
OMIM:256050 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis, Right ventricular hypertrophy, Abnormal macrophage morphology |
ORPHA:353 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Abnormal heart valve morphology, Sho... |
OMIM:253000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Patent foramen ovale |
OMIM:615156 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Increased vertebral height, Cryptorchidism, Kyphoscoliosis, Hyperl... |
OMIM:616817 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Hyperlordosis, Scoliosis, Right ventricular hypertrophy, Right ventricular dilatation |
OMIM:253700 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... |
OMIM:264180 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies |
ORPHA:63446 |
| Oculodentodigital Dysplasia |
|
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... |
ORPHA:2710 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Spinal rigidity |
ORPHA:157973 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
ORPHA:99642 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair |
OMIM:222470 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, Kypho... |
ORPHA:3041 |
| Craniofrontonasal Syndrome |
|
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... |
OMIM:304110 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... |
OMIM:184100 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Hyperlordosis, Back pain |
OMIM:618129 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... |
OMIM:617506 |
| Trichohepatoneurodevelopmental Syndrome |
|
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... |
OMIM:618268 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Irregular vertebral endplates |
OMIM:618363 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:607155 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... |
OMIM:252920 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... |
ORPHA:2963 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hyperlordosis, Spinal rigidity |
ORPHA:267 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy,... |
OMIM:616651 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair |
OMIM:115150 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Platyspondyly, Thickened aortic valve cusp, Left ventricular hypertrophy, ... |
OMIM:619698 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia |
OMIM:618987 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
| Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly |
OMIM:240500 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis |
OMIM:255310 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails |
OMIM:615821 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormal heart morphology, ... |
ORPHA:354 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hyperlordosis |
ORPHA:369840 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Hyperlordosis, Ventricular septal defect |
OMIM:617450 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia |
OMIM:608184 |
| Craniofrontonasal Dysplasia |
|
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak |
ORPHA:1520 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:606612 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastinal lymphad... |
ORPHA:83469 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... |
OMIM:609981 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi... |
ORPHA:54251 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Lumbar hyperlordosis, Cryptorchidism, Micropenis, Hepatomegaly |
OMIM:619185 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells |
OMIM:620282 |
| Nemaline Myopathy 2 |
|
Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:256030 |
| Weaver Syndrome |
|
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails |
ORPHA:3447 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hyper... |
OMIM:618870 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... |
OMIM:150550 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Kyphoscoliosis, Cardiomegal... |
OMIM:300280 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... |
OMIM:300953 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
| Three M Syndrome 1 |
|
Decreased testicular size, Increased vertebral height, Short neck, Hyperlordosis, Spina bifida oc... |
OMIM:273750 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Widow's peak, Fine hair |
OMIM:615828 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hyp... |
ORPHA:353298 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:607721 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair |
ORPHA:1028 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis |
OMIM:184250 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Long eyelashes, Fine hair, High anterior hairline |
ORPHA:231137 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... |
ORPHA:2789 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... |
OMIM:601859 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Hypopituitarism... |
OMIM:600462 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis |
ORPHA:536516 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... |
ORPHA:1159 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:313892 |
| Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
ORPHA:1401 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair |
OMIM:616943 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Autosomal Recessive Centronuclear Myopathy |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis |
ORPHA:169186 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... |
ORPHA:277 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly |
ORPHA:397596 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Nail dystrophy, Brittle hair |
ORPHA:75389 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Hyperlordosis,... |
ORPHA:582 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... |
OMIM:603909 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hyperlordosis, Hypo... |
ORPHA:3130 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:252605 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis |
ORPHA:1803 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Hypertrophic cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal ri... |
ORPHA:98863 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... |
OMIM:256550 |
| Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Cervical platyspondyly, Lumbar hyperlordosis, Splenomegal... |
OMIM:230000 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Hyperlordosis, Scoliosis, Back pai... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Hyperlordosis, Scoliosis, Back pai... |
ORPHA:98853 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis |
OMIM:114300 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity |
ORPHA:98855 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Back pain |
OMIM:167320 |
| Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop... |
ORPHA:507 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... |
OMIM:615122 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Short neck, Lymphadenopathy, Scoliosis |
OMIM:619750 |
| Pseudoachondroplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... |
ORPHA:750 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly |
ORPHA:79477 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Hyperlordosis, Cardiomyopathy |
ORPHA:52430 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
| Adult Syndrome |
|
Alopecia, Absent nipple, Toenail dysplasia, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... |
ORPHA:978 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Platyspondyly, Cervical kyphosis, Decreased testicular size, Lumbar hyperlordosis, Kyphoscoliosis... |
OMIM:255800 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:619451 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Kyphoscoliosis, Cardiomegaly, Abnormal atrioventric... |
ORPHA:324410 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Hepatome... |
OMIM:253010 |
| Netherton Syndrome |
|
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar... |
ORPHA:634 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... |
OMIM:609616 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Leukopenia, Lumbar hyperlordosis, Mitral v... |
OMIM:216550 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... |
ORPHA:93284 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... |
OMIM:257980 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... |
ORPHA:444077 |
| Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... |
OMIM:614034 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Hypersplenism, Increased vertebral height, Splenomegaly, Lumbar hyperlordosis, Hepa... |
OMIM:613385 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Tularemia |
|
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... |
ORPHA:3392 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... |
OMIM:225060 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Scoliosis, Hyperlordosis, Cardiomyopathy |
OMIM:310200 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3082 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:2831 |
| Cantu Syndrome |
|
Platyspondyly, Congenital hypertrophy of left ventricle, Cuboid-shaped vertebral bodies, Cardiome... |
OMIM:239850 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... |
OMIM:617796 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia |
OMIM:620514 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Platyspondyly, Lymphopenia, Lumbar hyperlordosis, T lymphocytopenia, Increased intervertebral spa... |
OMIM:607944 |
| Menkes Disease |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias, Breast hypoplasia, Lumbar hyperlordosis, Cr... |
ORPHA:1439 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Short neck, ... |
OMIM:617022 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, L... |
OMIM:242900 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, S... |
OMIM:129400 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
ORPHA:3353 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252900 |
| Oculoskeletodental Syndrome |
|
Scoliosis, Hyperlordosis, Thoracic kyphosis |
ORPHA:557003 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Widened interpedicular distance |
OMIM:146000 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys |
OMIM:617412 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair |
OMIM:605676 |
| Typical Nemaline Myopathy |
|
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
ORPHA:171436 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| American Trypanosomiasis |
|
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly |
ORPHA:3386 |
| Pycnodysostosis |
|
Spondylolysis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Spondyl... |
ORPHA:763 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... |
OMIM:619950 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hyperlordosis, Hepatomegaly, Scoliosis, Spinal rigidity |
OMIM:613327 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair |
OMIM:256500 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
| Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Coarse hair, Synophrys |
OMIM:252930 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis |
ORPHA:435387 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... |
OMIM:601675 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
| 3Mc Syndrome |
|
Caudal appendage, Bilateral cryptorchidism, Supernumerary nipple, Prominent coccyx, Hyperlordosis... |
ORPHA:293843 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| 3M Syndrome |
|
Hypospadias, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:2616 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Three M Syndrome 3 |
|
Short neck, Increased vertebral height, Hyperlordosis |
OMIM:614205 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, Kyphosis |
OMIM:618443 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:251450 |
| Hall-Riggs Syndrome |
|
Coarse hair, Thick hair, Slow-growing hair |
ORPHA:2107 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
ORPHA:97289 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Nail dystrophy, Brittle hair |
ORPHA:93947 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... |
OMIM:602782 |
| Noonan Syndrome 2 |
|
Low posterior hairline, Sparse eyebrow, Curly hair |
OMIM:605275 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3218 |
| Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis |
ORPHA:3137 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Cap Myopathy |
|
Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis |
ORPHA:171881 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Hyperlordosis, Right ventricular hypertrophy, Spinal rigidity |
ORPHA:268 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Cryptorchidism, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:568 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Scoliosis, Hyperlordosis, Vertebral segmentation defect |
ORPHA:1323 |
| Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism |
ORPHA:1332 |
| Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl... |
ORPHA:99812 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Tonne-Kalscheuer Syndrome |
|
Small nail, Fine hair, Concave nail |
OMIM:300978 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno... |
ORPHA:505248 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates |
OMIM:156500 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Hyperlordosis |
ORPHA:3068 |
| Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia... |
ORPHA:1830 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Abnormality of hair texture, Coarse hair, Brittle hair |
OMIM:219200 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Lumbar hyperlordosis, Cryptorchidism, Short neck, Atrial septal defect, Micropenis |
OMIM:609625 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Thoracic scoliosis, Cardiomegaly, Left ventricul... |
ORPHA:79330 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis |
OMIM:620232 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Platyspondyly, Thoracic platyspondyly, Patent foramen ovale, Kyphoscoliosis, Short neck, Beaking ... |
ORPHA:457395 |
| Anauxetic Dysplasia 1 |
|
Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Lumbar hyperlordosis, Short neck,... |
OMIM:607095 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Lymphadenopathy, Goiter |
ORPHA:142 |
| Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, ... |
OMIM:618935 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353327 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatom... |
ORPHA:381 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, ... |
ORPHA:85450 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Mitral valve prolapse, Pericarditis |
ORPHA:2848 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Bone-marr... |
OMIM:257200 |
| Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
| Congenital Myopathy 10B, Mild Variant |
|
Scoliosis, Hyperlordosis |
OMIM:620249 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair |
OMIM:619244 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... |
OMIM:619644 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Coronal cleft ver... |
ORPHA:1427 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... |
OMIM:620519 |
| Martsolf Syndrome 1 |
|
Cardiomyopathy, Lumbar hyperlordosis, Cryptorchidism, Thoracic scoliosis, Hypogonadotropic hypogo... |
OMIM:212720 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... |
ORPHA:94068 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Lumba... |
ORPHA:93315 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618986 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Leukocytosis, Splenomegaly, Hepatomegaly, ... |
OMIM:615895 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre... |
ORPHA:508533 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... |
OMIM:183900 |
| Arthrogryposis, Distal, Type 5D |
|
Hypoplastic labia majora, Scoliosis, Hyperlordosis, Short neck |
OMIM:615065 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Hyperlordosis, Abnormal heart morphology |
ORPHA:26791 |
| Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Decrea... |
OMIM:616007 |
| Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Sacral dimple, ... |
ORPHA:175 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow, Fine hair |
OMIM:190351 |
| Three M Syndrome 2 |
|
Short neck, Hyperlordosis, Lumbar hyperlordosis |
OMIM:612921 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Kyphosis, Aplasia/hypoplasia of the uterus, Breast hypoplasia, Non-obstruc... |
ORPHA:2232 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... |
OMIM:616100 |
| Zttk Syndrome |
|
Broad eyebrow, Sparse eyebrow, Curly hair |
OMIM:617140 |
| Costello Syndrome |
|
Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails |
OMIM:218040 |
| Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy,... |
ORPHA:160 |
| Fetal Hydantoin Syndrome |
|
Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Short neck, ... |
OMIM:616897 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... |
OMIM:613179 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplasia of the odontoid process, Cardiomyopathy, Anterior wedging of L1, Lumbar hyperlordosis,... |
OMIM:253200 |
| Myopathy, Myofibrillar, 7 |
|
Thoracic kyphosis, Scoliosis, Lumbar hyperlordosis, Spinal rigidity |
OMIM:617114 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Hepatomegaly, Myocarditis, Generalized l... |
ORPHA:829 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Pheochromocytoma, Parathyroid hyperplasia, Hyperlordosis, Nodular goiter, Scoliosis, Kyphosis |
OMIM:162300 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:83313 |
| Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia, Splen... |
ORPHA:1328 |
| Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:617988 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:217346 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Synophrys |
OMIM:619428 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Lumbar hyperlordosis, Platyspondyly, Irregular vertebral endplates |
ORPHA:174 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Narrow ... |
OMIM:250250 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ... |
ORPHA:457077 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, Cryptorchidism, Ven... |
ORPHA:251028 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Abnormal hair pattern, Scarring a... |
ORPHA:35173 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... |
ORPHA:1451 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Cardiomyopathy |
ORPHA:370959 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardial effusion |
ORPHA:36412 |
| Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymp... |
OMIM:300755 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... |
OMIM:618048 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... |
ORPHA:15 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Cervical neoplasm, Kyphos... |
ORPHA:653 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Immunodeficiency 10 |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... |
OMIM:612783 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Tiger tail banding, Brittle hair |
OMIM:616395 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158310 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Lumbar hyperlordosis, Cryptorchidism |
OMIM:602471 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disorder |
ORPHA:79456 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Synophrys, Sparse hair, Fine hair, Low anterior hairline |
ORPHA:391408 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Hepatomegaly, Irregular vertebr... |
OMIM:226980 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph... |
ORPHA:2035 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Cardiomyopathy, Cervical spinal canal stenosis, Decreased response to growth ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Cardiomyopathy, Cervical spinal canal stenosis, Decreased response to growth ... |
ORPHA:363958 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy, Myocarditis, Endocarditi... |
ORPHA:549 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Short neck, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:615222 |
| Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Lymphadenopathy... |
ORPHA:2686 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... |
ORPHA:158061 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Coarse hair, Low anterior hairline |
ORPHA:2095 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Lumbar kyphosis, Back pain, Lumbar hyperlo... |
OMIM:619234 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Sclerot... |
ORPHA:2905 |
| Saethre-Chotzen Syndrome |
|
Abnormal form of the vertebral bodies, Hyperlordosis, Scoliosis, Cryptorchidism |
ORPHA:794 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Lumbar hyperlordosis, Back pain |
OMIM:169550 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... |
OMIM:619503 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Testicul... |
ORPHA:465508 |
| Pfeiffer Syndrome |
|
Short neck, Hyperlordosis |
ORPHA:710 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Short neck, Severe platyspondyly, Dysplastic sacrum |
OMIM:613320 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Kyphoscoliosis, Fluctuating hepatomeg... |
OMIM:610377 |
| Costello Syndrome |
|
Abnormal hair morphology, Abnormal fingernail morphology, Hypoplastic toenails, Deep-set nails, C... |
ORPHA:3071 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
ORPHA:169090 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Lymphade... |
OMIM:304790 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hyposegmentation of neutrophil nuc... |
OMIM:618019 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastin... |
ORPHA:809 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Long eyelashes, Fine hair, Synophrys |
OMIM:620250 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Trichorhinophalangeal Syndrome, Type I |
|
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... |
OMIM:190350 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
| Stiff-Person Syndrome |
|
Anemia, Lumbar hyperlordosis |
OMIM:184850 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys |
ORPHA:1394 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... |
ORPHA:1071 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hypogonadism, Small scrotum, Hyperlordosis |
ORPHA:3253 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... |
ORPHA:436159 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Cantú Syndrome |
|
Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb... |
ORPHA:1517 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... |
OMIM:305100 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Beaking of vertebral bodies |
OMIM:215150 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Short neck, Lumbar hyperlordosis |
OMIM:612813 |
| Schwartz-Jampel Syndrome |
|
Platyspondyly, Decreased testicular size, Abnormally straight spine, Short neck, Hyperlordosis, T... |
ORPHA:800 |
| Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Hyperlordosis, Hepatomegaly |
OMIM:301066 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... |
OMIM:614700 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
| Opitz-Kaveggia Syndrome |
|
Abnormal heart morphology, Lumbar hyperlordosis, Cryptorchidism, Short neck, Hypospadias, Sacral ... |
OMIM:305450 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperlordosis, Lumbar hyperlordosis, Cryptorchidism |
OMIM:616078 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Acromesomelic Dysplasia 1 |
|
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... |
OMIM:602875 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... |
OMIM:223800 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Ambiguous genitalia, Abnormal form of the vertebral bodies, Prominent protr... |
ORPHA:2839 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... |
OMIM:277600 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Broad lateral eyebrow, Curly hair |
ORPHA:500150 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral... |
OMIM:271510 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
| Revesz Syndrome |
|
Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits |
OMIM:268130 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma |
OMIM:616482 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
| Ogden Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... |
OMIM:603553 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenopathy, Back pain |
ORPHA:1333 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Q Fever |
|
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Lymphadenopathy,... |
ORPHA:781 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| Frontorhiny |
|
Hypopituitarism, Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:267700 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:617591 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Distal Deletion 10Q |
|
Spina bifida occulta, Lumbar hyperlordosis, Atrial septal defect |
ORPHA:96148 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal heart morphology, Cryptorchidism,... |
OMIM:615873 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:540 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... |
ORPHA:79124 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Alexander Disease |
|
Precocious puberty, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:58 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Thrombocytopenia, Neutrope... |
OMIM:308230 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Acrofacial Dysostosis, Catania Type |
|
Abnormal hair pattern, Coarse hair |
ORPHA:1786 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Orchitis, Abnormal sacroiliac joint morphology, Abnormal myocardium m... |
ORPHA:32960 |
| Bethlem Muscular Dystrophy |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:610 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplastic nipples, Hypertrichosis, Curly hair |
ORPHA:480880 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Hypoplasia of the odontoid process, C2-C3 subluxation, Vertebral segmentation de... |
OMIM:272460 |
| Hallermann-Streiff Syndrome |
|
Hyperlordosis, Scoliosis, Cryptorchidism |
OMIM:234100 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair |
OMIM:613451 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricula... |
OMIM:143095 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:608612 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Lumbar hyperlordosis, Cryptorchidism, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:620450 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, El... |
ORPHA:97287 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys |
OMIM:617303 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia, Pe... |
ORPHA:93552 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorc... |
OMIM:300967 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomegaly |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomegaly |
OMIM:233710 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Cardiomyopathy |
ORPHA:258 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:608013 |
| Argininosuccinic Aciduria |
|
Trichorrhexis nodosa, Dry hair, Brittle hair |
OMIM:207900 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple |
ORPHA:1812 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Lymp... |
ORPHA:168569 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hyperlordosis, Hepatomeg... |
ORPHA:365 |
| Achondroplasia |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Spinal sten... |
OMIM:100800 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Beaking of vertebral bodies T12-L3,... |
OMIM:252500 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Acromesomelic Dysplasia 4 |
|
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte... |
OMIM:619636 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... |
ORPHA:2108 |
| Tangier Disease |
|
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... |
ORPHA:31150 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hilar lymph node enlargement, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Right atrial enl... |
OMIM:620233 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia |
OMIM:613990 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomegaly |
OMIM:233690 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:261330 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Scoliosis, Cryptorchidism |
OMIM:618143 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Lumbar hyperlordosis, Cryptorchidism, Patent foramen ovale, Ventricular septal ... |
OMIM:616975 |
| Cardiofaciocutaneous Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Low posterior hairline,... |
ORPHA:1340 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Scoliosis, Hyperlordosis |
OMIM:615356 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Sparse hair, Broad nail, Fine hair |
OMIM:614099 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia |
OMIM:617099 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Abnormal heart morphology, Kyphoscoliosis, Hyperlordosis, Scoliosis |
ORPHA:2020 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy |
ORPHA:100082 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Lumbar hemivertebrae, Abnormal thymus morphology |
ORPHA:2463 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy, Hepatomegaly |
OMIM:142680 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Diamond-Blackfan Anemia 21 |
|
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys |
OMIM:620072 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Trisomy 20P |
|
Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,... |
ORPHA:261318 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia |
OMIM:260920 |
| Desbuquois Dysplasia 2 |
|
Platyspondyly, Short neck, Lumbar hyperlordosis |
OMIM:615777 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Platyspondyly, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:245600 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Abnormal form of the vertebral bodies, Adenoiditis, Splenomegaly, Abnormal... |
ORPHA:581 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Fine hair, Sparse eyelashes |
OMIM:257850 |
| Williams Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid ao... |
ORPHA:904 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... |
OMIM:615934 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
| Bcard Syndrome |
|
Nail dysplasia, Coarse hair |
OMIM:612394 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegal... |
OMIM:615688 |
| Brucellosis |
|
Sacroiliac arthritis, Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Abnormal aortic valv... |
ORPHA:1304 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Fair hair |
OMIM:610443 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... |
OMIM:608328 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, ... |
OMIM:620376 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils |
ORPHA:33226 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... |
OMIM:600802 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... |
ORPHA:83471 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... |
ORPHA:363700 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Fine hair, Brittle hair |
OMIM:618891 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Trichothiodystrophy |
|
Aplasia/Hypoplasia of the nails, Tiger tail banding, Ridged nail, Alopecia of scalp, Concave nail... |
ORPHA:33364 |
| Multiple Myeloma |
|
Anemia, Splenomegaly, Vertebral compression fracture, Lymphadenopathy |
ORPHA:29073 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Nail-Patella Syndrome |
|
Spondylolysis, Lumbar hyperlordosis, Spondylolisthesis, Scoliosis, Back pain |
ORPHA:2614 |
| 2P15P16.1 Microdeletion Syndrome |
|
Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple |
ORPHA:261349 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia |
ORPHA:1572 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Atrial septal defect |
ORPHA:522077 |
| Carney Triad |
|
Anemia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Mucopolysaccharidosis, Type Iiid |
|
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys |
OMIM:252940 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Nail-Patella Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Back pain |
OMIM:161200 |
| Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Low back pain, Lymphadenopathy, Pericarditis |
ORPHA:342 |
| Malt Lymphoma |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Lymphadenop... |
OMIM:619418 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Myocarditis,... |
ORPHA:499009 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomegaly |
OMIM:306400 |
| Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormality of the vertebral column, Abnormality of the spleen... |
ORPHA:228123 |
| Lymphangioleiomyomatosis |
|
Abnormal morphology of female internal genitalia, Pulmonary lymphangiomyomatosis, Abnormality of ... |
ORPHA:538 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Abnormality of the cervical spine, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
| Weaver Syndrome |
|
Fine hair, Sparse hair, Thin nail, Deep-set nails |
OMIM:277590 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Hypopigmentation of hair, Woolly hair |
ORPHA:84064 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy |
ORPHA:39812 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2637 |
| Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:614162 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... |
OMIM:130650 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, Nail pits |
ORPHA:1896 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:333 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hair |
ORPHA:920 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias |
OMIM:620306 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... |
OMIM:601358 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Iron deficiency anemia, Chronic noninfect... |
ORPHA:100075 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... |
OMIM:300855 |
| Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Sparse hair, Fine hair |
ORPHA:444072 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... |
ORPHA:51 |
| Neuroblastoma |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:635 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... |
ORPHA:37042 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Splenic cyst, Cardiomegaly, Cryptorchidism, Patent foramen ovale |
OMIM:620371 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Sparse axillary hair, Patchy alopecia, Nail dysplas... |
OMIM:181270 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair |
OMIM:614748 |
| Hennekam Syndrome |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Pericardial effusion, Lym... |
ORPHA:2136 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... |
ORPHA:331235 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair |
OMIM:613563 |
| Dubowitz Syndrome |
|
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante... |
ORPHA:235 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Iron deficiency anemia, Lymphadenopathy, Pulmonic stenosis |
ORPHA:100078 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Kyphosis, Abnormal form of the vertebral bodies, Neoplasm of the ... |
ORPHA:744 |
| Abetalipoproteinemia |
|
Acanthocytosis, Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Hepatomegaly, Anemia |
ORPHA:14 |
| Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Biventric... |
OMIM:619573 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis |
ORPHA:457359 |
| Neuroendocrine Neoplasm Of Appendix |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Hepatomegaly, Tricuspi... |
ORPHA:100079 |
| Sponastrime Dysplasia |
|
Precocious puberty, Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Bic... |
ORPHA:93357 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:607778 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Short neck, Hyperlordosis, Hypospadi... |
OMIM:113620 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepa... |
OMIM:256040 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosi... |
ORPHA:3260 |
| Turnpenny-Fry Syndrome |
|
Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Thor... |
OMIM:618371 |
| Malakoplakia |
|
Prostate neoplasm, Follicular hyperplasia, Orchitis |
ORPHA:556 |
| Mucolipidosis Type Ii |
|
Fine hair, Dry hair, White hair |
ORPHA:576 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Pericardial effusion, Splenomegaly, Generalized lymphaden... |
OMIM:181000 |
| Behçet Disease |
|
Splenomegaly, Orchitis, Abnormal myocardium morphology, Lymphadenopathy, Endocarditis, Pericarditis |
ORPHA:117 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Marshall-Smith Syndrome |
|
Highly arched eyebrow, Hypertrichosis, Thick eyebrow, Brittle hair, Sparse hair, Synophrys |
OMIM:602535 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis |
OMIM:182210 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Splenomeg... |
ORPHA:116 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:667 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys |
ORPHA:73223 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Liver Disease, Severe Congenital |
|
Pancreatic hypoplasia, Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent for... |
OMIM:619991 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Scoliosis |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries |
ORPHA:137675 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Sparse hair, Coarse hair, Brittle hair |
ORPHA:2750 |
| Hajdu-Cheney Syndrome |
|
Coarse hair, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairline, Generalized hi... |
ORPHA:955 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Cranioectodermal Dysplasia 1 |
|
Short nail, Fine hair, Thin nail, Slow-growing hair, Sparse hair |
OMIM:218330 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Leukopenia, Pancytopenia, Leukocytosis, Splenomegaly, Orchitis, Myocarditis, Lymphaden... |
ORPHA:99827 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Ly... |
ORPHA:449395 |
| Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Increased T ... |
ORPHA:797 |
| Iniencephaly |
|
Absent vertebra, Hyperlordosis |
ORPHA:63259 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair |
OMIM:280000 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anoperineal fistula, Decreased proportion of naive T cells, Fo... |
OMIM:619381 |
| Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Lymphad... |
ORPHA:449563 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Fontaine Progeroid Syndrome |
|
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Low anterior hairline, Low posterior hair... |
OMIM:612289 |
| Cockayne Syndrome B |
|
Abnormal hair morphology, Sparse hair, Dry hair |
OMIM:133540 |
| Occipital Horn Syndrome |
|
Pili torti, Coarse hair |
OMIM:304150 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... |
ORPHA:3472 |
| Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
| Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair |
OMIM:309350 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
| Noonan Syndrome |
|
Low posterior hairline, Coarse hair, Abnormal hair quantity |
ORPHA:648 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Neoplas... |
ORPHA:99889 |
| Myhre Syndrome |
|
Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair |
ORPHA:90324 |
| Blau Syndrome |
|
Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gland morphology, Pericarditis |
ORPHA:90340 |
| Cockayne Syndrome A |
|
Sparse hair, Dry hair |
OMIM:216400 |
| Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
| Focal Dermal Hypoplasia |
|
Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Nail dysplasia, Patchy alopeci... |
OMIM:305600 |
| Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Thick eyebrow, Hypoplastic fifth... |
OMIM:135900 |
| Renpenning Syndrome 1 |
|
Sparse hair, Sparse lateral eyebrow, Brittle hair |
OMIM:309500 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... |
OMIM:300106 |
| Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Neuroocular Syndrome 1 |
|
Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Brittle hair, Syn... |
OMIM:619539 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow |
OMIM:303600 |
| Leptospirosis |
|
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Pericarditis |
ORPHA:509 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Fine hair |
ORPHA:534 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
OMIM:210710 |
| Microphthalmia, Syndromic 1 |
|
Hypospadias, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Bicuspid aortic valve, Scoliosis |
OMIM:309800 |
| African Trypanosomiasis |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Abnormal prolactin level, Myocarditis, Hepatom... |
ORPHA:3385 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair |
ORPHA:83617 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Cardiomegaly, Pericardial effusion, Myocardial... |
ORPHA:51608 |
| Noonan Syndrome 1 |
|
Low posterior hairline, Woolly hair |
OMIM:163950 |
| Witteveen-Kolk Syndrome |
|
High anterior hairline, Fine hair, Medial flaring of the eyebrow, Hyperconvex nail, Fragile nails |
OMIM:613406 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormality of hair texture, Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eye... |
ORPHA:286 |
| Alström Syndrome |
|
Frontal balding, Fine hair, Hirsutism |
ORPHA:64 |
