-
| 180068 | Partial bilateral aplasia of the Müllerian ducts
-
| 180065 | Non-syndromic uterovaginal malformation
-
| 287 | Ehlers-Danlos syndrome, classic type
-
| 180062 | Uterovaginal malformation
-
| 180106 | Bicervical bicornuate uterus and blind hemivagina
-
| 180086 | Didelphys uterus
-
| 180079 | Pseudounicornuate uterus
-
| 180074 | True unicornuate uterus
-
| 180122 | Septate uterus
-
| 180118 | Cordiform uterus
-
| 180114 | Unicervical bicornuate uterus
-
| 180111 | Bicervical bicornuate uterus with patent cervix and vagina
-
| 180134 | Bicornuate uterus
-
| 180139 | Uterine hypoplasia
-
| 180126 | Complete septate uterus
-
| 180129 | Partial septate uterus
-
| 180148 | Syndromic uterovaginal malformation
-
| 1020 | Early-onset autosomal dominant Alzheimer disease
-
| 180151 | Rare vaginal malformation
-
| 63 | Alport syndrome
-
| 54 | X-linked recessive ocular albinism
-
| 180142 | Agenesis and aplasia of uterine body
-
| 180145 | Uterine cervical aplasia and agenesis
-
| 180160 | Transverse vaginal septum
-
| 154 | Familial isolated dilated cardiomyopathy
-
| 180163 | Rare breast malformation
-
| 84 | Fanconi anemia
-
| 180154 | Septate vagina
-
| 70 | Proximal spinal muscular atrophy
-
| 69 | Amyloidosis
-
| 180157 | Longitudinal vaginal septum
-
| 180173 | Deficient breast volume or number
-
| 191 | Cockayne syndrome
-
| 180176 | Familial juvenile hypertrophy of the breast
-
| 166 | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
-
| 180170 | Excess breast volume or number
-
| 178551 | Aggressive primary cutaneous T-cell lymphoma
-
| 178548 | Indolent primary cutaneous T-cell lymphoma
-
| 834 | Free sialic acid storage disease
-
| 178557 | Indolent primary cutaneous B-cell lymphoma
-
| 178554 | Aggressive primary cutaneous B-cell lymphoma
-
| 3135 | Familial Scheuermann disease
-
| 799 | Schizencephaly
-
| 178563 | Primary cutaneous B-cell lymphoma
-
| 3151 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
-
| 178566 | Mycosis fungoides and variants
-
| 813 | Silver-Russell syndrome
-
| 3169 | Sirenomelia
-
| 816 | Sjögren-Larsson syndrome
-
| 821 | Sotos syndrome
-
| 3173 | Infantile spasms-broad thumbs syndrome
-
| 3204 | Stormorken-Sjaastad-Langslet syndrome
-
| 3205 | Sturge-Weber syndrome
-
| 3320 | Thrombocytopenia-absent radius syndrome
-
| 178996 | Acquired neutropenia
-
| 3346 | Tracheal agenesis
-
| 179006 | Primary immunodeficiency due to a defect in adaptive immunity
-
| 858 | Congenital toxoplasmosis
-
| 1245 | BIDS syndrome
-
| 3390 | Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
-
| 887 | VACTERL/VATER association
-
| 291 | Congenital varicella syndrome
-
| 909 | Cerebrotendinous xanthomatosis
-
| 3447 | Weaver syndrome
-
| 1422 | Chondrodysplasia-disorder of sex development syndrome
-
| 178478 | Infant botulism
-
| 178481 | Intestinal botulism
-
| 178469 | Autosomal dominant non-syndromic intellectual disability
-
| 178475 | Wound botulism
-
| 178461 | X-linked myopathy with postural muscle atrophy
-
| 178464 | Hereditary myopathy with early respiratory failure
-
| 178396 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
-
| 178400 | Distal myopathy with anterior tibial onset
-
| 178382 | Congenital vertical talus
-
| 178389 | Osteopetrosis-hypogammaglobulinemia syndrome
-
| 62 | Autosomal recessive limb-girdle muscular dystrophy type 2D
-
| 178364 | Syndromic microphthalmia type 5
-
| 715 | Glycogen storage disease due to muscle phosphorylase kinase deficiency
-
| 178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome
-
| 348 | Fructose-1,6-bisphosphatase deficiency
-
| 178345 | Aromatase excess syndrome
-
| 178355 | Smith-McCort dysplasia
-
| 178338 | UV-sensitive syndrome
-
| 3137 | Alpha-N-acetylgalactosaminidase deficiency
-
| 178342 | Inflammatory myofibroblastic tumor
-
| 178544 | Primary cutaneous diffuse large B-cell lymphoma, leg type
-
| 178540 | Primary cutaneous follicle center lymphoma
-
| 117 | Behçet disease
-
| 178536 | Primary cutaneous marginal zone B-cell lymphoma
-
| 732 | Polymyositis
-
| 178533 | Primary cutaneous gamma/delta-positive T-cell lymphoma
-
| 221 | Dermatomyositis
-
| 598 | Multiminicore myopathy
-
| 178528 | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
-
| 178522 | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
-
| 204 | Sporadic Creutzfeldt-Jakob disease
-
| 178517 | Localized pagetoid reticulosis
-
| 178512 | Folliculotropic mycosis fungoides
-
| 178509 | Perry syndrome
-
| 178506 | Brain calcification, Rajab type
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